Telangiectasia Macularis Eruptiva Perstans Research Articles

Challenges in the Diagnosis of Cutaneous Mastocytosis.

Mastocytosis is characterized by an accumulation of clonal mast cells (MCs) in tissues such as the skin. Skin lesions in mastocytosis may be clinically subtle or heterogeneous, and giving the correct diagnosis can be difficult. This study compiles personal experiences together with relevant literature, discussing possible obstacles encountered in diagnosing skin involvement in mastocytosis and cutaneous mastocytosis (CM). The nomenclature of the term "CM" is ambiguous. The WHO classification defines CM as mastocytosis solely present in the skin. However, the term is also used as a morphological description, e.g., in maculopapular cutaneous mastocytosis (MPCM). This is often seen in systemic, as well as cutaneous, mastocytosis. Typical CM manifestations (MPCM), including mastocytoma or diffuse cutaneous mastocytosis (DCM), all share a positive Darier's sign, and can thus be clinically recognized. Nevertheless, distinguishing monomorphic versus polymorphic MPCM may be challenging, even for experienced dermatologists. Less typical clinical presentations, such as MPCM with telangiectatic erythemas (formerly called telangiectasia macularis eruptiva perstans), confluent, nodular or xanthelasmoid variants may require a skin biopsy for histopathological confirmation. Because MC numbers in CM have a large overlap to those in healthy and inflamed skin, detailed histopathological criteria to diagnose mastocytosis in MPCM are needed and have been proposed. D816V KIT mutational analysis in tissue is helpful for confirming the diagnosis. Biomarkers allow the prediction of the course of CM into regression or evolution of the disease. Further diagnostic measures should screen for concomitant diseases, such as malignant melanoma, and for systemic involvement. Whereas in typical cases the diagnosis of CM may be uncomplicated, less typical manifestations may require specific investigations for making the diagnosis and predicting its course.

Unusual presentation of telangiectasia macularis eruptiva perstans at the site of healed herpes zoster; Wolf's isotopic response.

There are several reported cases of Wolf's isotopic response, including infections, cancers, inflammatory and immune-related disorders. It is interesting that the majority of these occurred after herpes zoster (HZ) had healed. In this article, we describe an unusual case of adult mastocytosis/telangiectasia macularis eruptiva perstans (TMEP) at the location of recovered HZ. Given that adult mastocytosis is thought to be caused by dysregulation of the mast cell growth factor receptor, the c-Kit proto-oncogene (CD117), and the fact that the varicella zoster virus-infected cutaneous lesions contain CD117-positive mast cells (CD117+MCs), we hypothesize that CD117+ MCs may be in charge of the local immunological response and cytokine release those results in TMEP after HZ.

Nevoid telangiectasia patches in a 17-year-old boy

A 17-year-old-boy presented to the Dermatology service with a 5-month history of mildly pruritic rash over his trunk and limbs. On examination, several erythematous telangiectatic patches were noted over his chest, bilateral flanks, hips, and lower limbs (Fig 1, A and B). These were accompanied by tenosynovitis over bilateral hands. 5 months after the initial review, the telangiectatic patches regressed with development of hypopigmented sclerotic plaques over these sites (Fig 1, C-E). A skin biopsy was arranged, and histology revealed thick dermal collagen fibers, with a perivascular and peri-adnexal lymphohistiocytic infiltrate within the superficial to deep dermis (Fig 2, A and B). Question 1: What is the most likely diagnosis for these telangiectatic patches ?A.Port wine stainB.Unilateral nevoid telangiectasiaC.Telangiectasia macularis eruptiva perstansD.MorpheaE.Benign hereditary telangiectasia Answer:A.Port wine stain – Incorrect. These present from birth as erythematous or violaceous patches.B.Unilateral nevoid telangiectasia – Incorrect. These may be congenital or acquired, and are characterized by multiple, unilateral and linearly arranged, blanchable telangiectases in a dermatomal (most frequently involving the third and fourth cervical dermatomes) or Blaschkoid pattern.1Kreft B. Marsch W. Wohlrab J. Unilateral nevoid telangiectasia Syndrome.Dermatology. 2004; 209: 215-217https://doi.org/10.1159/000079892Crossref PubMed Scopus (27) Google ScholarC.Telangiectasia macularis eruptiva perstans – Incorrect. This is characterized by brownish erythematous macules and telangiectasia usually located at the chest and limbs.2Costa D.L. Moura H.H. Rodrigues R. Pineiro-Maceira J. Ramos-E-Silva M. Telangiectasia macularis eruptiva perstans: a rare form of adult mastocytosis.J Clin Aesthet Dermatol. 2011; 4: 52-54PubMed Google ScholarD.Morphea – Correct. This is consistent with the skin biopsy results. This case also highlights telangiectatic patches as a unique early presentation of morphea, before its evolution to well-recognized hypopigmented sclerotic plaques.E.Benign hereditary telangiectasia – Incorrect. Distribution of telangiectasia is generalized or in photo-exposed areas. Patients do not have any systemic involvement. Morphea, also known as localized scleroderma, is an autoimmune condition characterized by inflammation and sclerosis of the skin and underlying soft tissues.3Abbas L. Joseph A. Kunzler E. Jacobe H.T. Morphea: progress to date and the road ahead.Ann Transl Med. 2021; 9: 437https://doi.org/10.21037/atm-20-6222Crossref PubMed Google Scholar It is characterized by distinctive cutaneous inflammation and fibrosis, and damage which produce atrophy. Unlike systemic scleroderma, morphea does not often involve the extra-cutaneous systems and also lacks the specific antibodies as found in systemic scleroderma.3Abbas L. Joseph A. Kunzler E. Jacobe H.T. Morphea: progress to date and the road ahead.Ann Transl Med. 2021; 9: 437https://doi.org/10.21037/atm-20-6222Crossref PubMed Google Scholar While early presentations are often of an erythematous patch or edematous plaque, morphea can also appear as telangiectatic patches. Question 2: What subtype of morphea does this patient have?A.CircumscribedB.GeneralizedC.LinearD.PanscleroticE.Mixed Answer:A.Circumscribed – Incorrect. Otherwise also known as plaque morphea, it begins as an erythematous-to-violaceous, edematous plaque of several centimeters and is most often located on the trunk with 3 or less lesions.B.Generalized – Correct. Defined as 4 or more morpheaform plaques involving at least 2 different anatomic sites.C.Linear – Incorrect. One or more linear streaks of cutaneous induration that may involve the dermis, subcutaneous tissue, muscle, and underlying bone.D.Pansclerotic – Incorrect. A very rare variant presenting with extensive full-thickness skin involvement sparing acral skin.E.Mixed – Incorrect. A combination of 1 or more morphea subtypes. The more modern and clinically appropriate classification, the ‘Pauda criteria’, divides morphea into circumscribed, generalized, linear, pansclerotic, and mixed subtypes. Each subtype has different clinical manifestations and degree of involvement of the subcutaneous soft tissues.4Florez-Pollack S. Kunzler E. Jacobe H.T. Morphea: current concepts.Clin Dermatol. 2018; 36: 475-486https://doi.org/10.1016/j.clindermatol.2018.04.005Abstract Full Text Full Text PDF PubMed Scopus (49) Google Scholar The patient’s findings were consistent with generalized morphea. Question 3: Which is the most common extracutaneous manifestation associated with morphea?A.GastrointestinalB.NeurologicalC.Musculoskeletal/articularD.VascularE.Respiratory Answer:A.Gastrointestinal – Incorrect. This includes gastrointestinal reflux.B.Neurological – Incorrect. Such as in the en coup de sabre type, neurological abnormalities can include migraines, trigeminal neuralgia, seizures, behavioral changes, and learning disability.5Zulian F. Vallongo C. Woo P. et al.Localized scleroderma in childhood is not just a skin disease.Arthritis Rheum. 2005; 52: 2873-2881https://doi.org/10.1002/art.21264Crossref PubMed Scopus (260) Google ScholarC.Musculoskeletal/articular – Correct. This is the most common extracutaneous manifestation of morphea and includes sacroiliitis, generalized synovitis, and inflammatory arthritis.D.Vascular – Incorrect. This can include Raynaud’s phenomenon, deep vein thrombosis, and vasculitis.E.Respiratory – Incorrect. This includes restrictive pulmonary disease, bronchopneumonia. In addition to involvement of joints and deeper subcutaneous areas underlying the lesions of morphea, patients may also experience other non-localized musculoskeletal manifestations. In a study of 750 patients with morphea, 22.4% had extracutaneous manifestations which included articular (47.2%), neurologic (17.1%), vascular (9.3%), ocular (8.3%), gastrointestinal (6.2%), respiratory (2.6%), cardiac, and renal.5Zulian F. Vallongo C. Woo P. et al.Localized scleroderma in childhood is not just a skin disease.Arthritis Rheum. 2005; 52: 2873-2881https://doi.org/10.1002/art.21264Crossref PubMed Scopus (260) Google Scholar Our patient’s rheumatological manifestation, with his initial presentation of tenosynovitis, likely represented early extra-cutaneous manifestations of morphea. None disclosed.

Dermoscopic Features of Different Forms of Cutaneous Mastocytosis: A Systematic Review.

The term mastocytosis refers to a heterogeneous group of disorders characterised by accumulation of clonal mast cells in different organs, most commonly in the skin. Little is known about the role of dermoscopy in the diagnostics of mastocytosis. To date, no systematic review on the dermoscopic features of cutaneous mastocytosis has been performed. The aim of this study was to summarise the current knowledge in the field as well as to identify the knowledge gaps to show possible directions for further studies, based on a systematic search of PubMed, Scopus, and Web of Science databases and related references published before 3 January 2022. Dermoscopic features, type of dermoscope, polarisation mode, magnification, and number of cases were analysed. In total, 16 articles were included in this review (3 case series and 13 case reports), analysing 148 patients with different variants of cutaneous mastocytosis; all of the studies analysed had a low level of evidence (V). The main dermoscopic features of urticaria pigmentosa included brown structureless areas, brown lines arranged in a network, and linear vessels distributed in a reticular pattern, with this last finding also being typical of telangiectasia macularis eruptiva perstans. The presence of either circumscribed yellow structureless areas or diffuse yellowish background was a constant pattern of mastocytoma, while nodular, pseudoangiomatous xanthelasmoid, and plaque-type mastocytosis were typified by light-brown structureless areas and/or pigment network, though the first two variants also showed yellow/yellow-orange structureless areas. Finally, pigmented streaks of radial distribution surrounding hair follicles were described to be a pathognomonic dermoscopic feature of pseudoxanthomatous mastocytosis. Although this review shows that the various clinical forms of cutaneous mastocytosis may feature diagnostic dermoscopic clues, it also underlines the need for further investigation as several relevant data are missing, including evaluation of dermoscopic pattern according to anatomical locations or “lesion age”, studies on rare mastocytosis variants, evaluation of the prognostic role of dermoscopy in the context of systemic involvement, and comparative analyses with common clinical mimickers.

Progressive ascending telangiectasias

Progressive ascending telangiectasias

Telangiectasia Macularis Eruptiva Perstans Treated with Narrow-Band UVB Phototherapy and Heliotherapy during the COVID-19 Pandemic

Telangiectasia macularis eruptiva perstans (TMEP) is a rare disease, previously classified as a variant of cutaneous mastocytosis. While no gold standard of treatment exists, several treatments have been studied. We report a case of a 63-year-old woman who presented with long-standing asymptomatic telangiectatic macules beginning on the upper chest, back, and bilateral arms, with occasional pruritus and no other systemic symptoms. Skin biopsy, along with Giemsa stain, revealed findings consistent with TMEP. The patient underwent testing for serum tryptase level, which was within normal limits. The patient was started on topical steroids for two weeks and antihistamine therapy, with a noted decrease in pruritus but no change in cutaneous lesions. She was then advised to start phototherapy, and subsequently underwent a total of five sessions of narrow-band ultraviolet B phototherapy, after which she noted lightening of the lesions. Due to the COVID pandemic, the patient was shifted to heliotherapy with continued lightening of lesions after two months of thrice weekly sessions. This rare case is supportive of narrow-band ultraviolet B phototherapy and heliotherapy as promising treatment options for cases of TMEP.

Telangiectasia Macularis Eruptiva Perstans Treated with Narrow-Band UVB Phototherapy and Heliotherapy during the COVID-19 Pandemic

Telangiectasia Macularis Eruptiva Perstans Treated with Narrow-Band UVB Phototherapy and Heliotherapy during the COVID-19 Pandemic

Cutaneous Manifestations in Mastocytosis: Update

Mastocytosis is characterized by the clonal expansion of morphological and immunophenotypically abnormal mast cells in different organs. The skin is the most frequently affected tissue. Virtually all children and more than 80% of adult patients with mastocytosis show cutaneous lesions. The present article describes the symptoms and signs in cutaneous mastocytosis, based on the review of recently published international consensus guidelines. According to the 2016 World Health Organization classification, mastocytosis can be divided in cutaneous mastocytosis, systemic mastocytosis and mast cell sarcoma. Cutaneous mastocytosis is subclassified in three subtypes: maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis and cutaneous astocytoma. Telangiectasia macularis eruptiva perstans is no longer considered a distinct entity. Based on the age of onset, cutaneous manifestations of mastocytosis can be variable. The classification of cutaneous mastocytosis has recently been updated. Typically, in patients with childhood-onset mastocytosis, the disease occurs as cutaneous mastocytosis and shows spontaneous resolution around puberty. In contrast, adult patients, despite having also cutaneous lesions, often show systemic involvement and the course of the disease is usually chronic.

UK Single Institution Experience of Mastocytosis: Guy's and St Thomas' NHS Foundation Trust

Introduction: Systemic mastocytosis (SM) is a heterogeneous disorder of neoplastic mast cells ranging from an indolent to aggressive multi-system disease. We registered our UK Mastocytosis Centre of Excellence with the European Competence Network of Mastocytosis (ECNM) in 2005. Our multidisciplinary team (MDT) includes haematologists, haematopathologists, dermatologist, immunologist and molecular diagnosticians. Over 500 patients have been reviewed in our quarterly SM-MDT. We present a large single centre experience of a rare disorder. Method: We have reviewed prospective and retrospectively collected clinical data for 125 adult patients from 2009. The data captures clinical, laboratory, diagnostic results and management. Local patients with a tryptase level of >20ug/L are offered haematology review and bone marrow investigation with KIT D816V mutation analysis using digital PCR. Patients seen for a second opinion have their diagnostic material reviewed. Since 2018, next generation sequencing (NGS) based myeloid gene panels are carried out on patients with advanced SM (AdvSM). Results: Classification of mastocytosis patients: In 125 patients no gender bias was seen: 56 (44.8%) were male and 69 (55.2%) female. Median age of patients with indolent SM (ISM) was 49 years (range 22-78); and for AdvSM: (aggressive SM, SM with an associated haematological neoplasm and mast cell leukaemia) was 64years (range 5-77). The median serum tryptase level was 48.9ug/L for ISM patients (range 4-682) and 120ug/L for AdvSM patients (range 24-854). 112/125 patients had a bone marrow biopsy. 13 patients chose not to have a biopsy. 88% (110/125) of patients had a mast cell disorder. 4% (5/125) had no marrow involvement. 84% (105/125) met WHO criteria for a diagnosis of SM - Figure 1.These were sub-classified: 71/105 (67%) ISM; 2/105 (2%) smouldering SM (SSM); 3/105 (3%) aggressive SM (ASM); 2/105 (2%) mast cell leukaemia (MCL) and 27/105 (26%) SM with an associated hematologic neoplasm (SM-AHN). The most frequent associated haematological neoplasms were MPN and CMML. Lymphomas (n=3) and plasma cell dyscrasias (n=1) were seen patients. In 10/27 (37%) cases of SM-AHN the SM was the initial diagnosis with subsequent development of an AHN. In 5/27(19%) cases the AHN component preceded the SM and in 12/27 (44%) cases the 2 components were co-diagnosed. Mutation status : 24/32 patients with AdvSM were noted to be positive for an activating KIT mutation (D816V, n=23; D816L, n=1). 15/32 AdvSM patients had NGS myeloid gene panel analysis for the SAR panel (SRSF2, ASXL1 and RUNX1) which confers poor prognosis. 4 of the15 patients harboured at least 2 out of 3 SAR mutations. JAK2 V617F mutation was detected in 7 of 8 classical MPN patients and in 1 of 4 patients with MPNu/MDS overlap. 4 patients had a TET2 mutation. 1 patient with mast cell leukaemia had a GATA2 mutation in addition to all 3 in the SAR panel. Cutaneous involvement: 70% (88/125) of patients had skin involvement: 62% (78/125) urticaria pigments, 3% (4/125) telangiectasia macularis eruptiva perstans and 5% (6/125) having non-specific involvement. Skin involvement was more common in ISM (78%) than AdvSM (54% in SM-AHN, none in the 2 patients with MCL). Management : Treatments in ISM are usually for symptom control. Antihistamines, anti-inflammatory agents, anti-leukotriene agents, mast cell stabilising agents, bisphosphonates, proton-pump inhibitors, PUVA and steroids are used. Various cytoreductive therapies have been used in AdvSM (hydroxycarbamide, pegylated interferon-α, cladrabine, cytarabine, azacitadine alone/combination with midostaurin). Patients with SM-AHN have tailored management depending on the disease component that requires treatment. Access to targeted therapies for AdvSM patients in a trial or compassionate use programme has been successful: 7/32 patients with advanced SM have been enrolled into trials (midostaurin 1; avapritinib 6). Conclusions: Our data reflects the heterogeneous nature of the SM classification spectrum clinically and diagnostically. An experienced MDT provides holistic high standard of care within a comprehensive centre for good patient outcomes (Figure 2). Development of a portfolio of novel therapeutic options in multi-centred, international collaborative trials is beneficial to patients and pivotal for research in this rare disorder. Disclosures Cross: Novartis: Consultancy, Research Funding; Incyte: Consultancy. McLornan:Jazz Pharmaceuticals: Honoraria, Speakers Bureau; Novartis: Honoraria. Radia:Blueprint Medicines: Consultancy; Novartis: Consultancy, Speakers Bureau. OffLabel Disclosure: There are very few medications available in mastocytosis and various off label medications have been used including pegylated interferon alpha.

JAAD Game Changers*: Telangiectasia macularis eruptiva perstans (TMEP): A form of cutaneous mastocytosis with potential systemic involvement

JAAD Game Changers*: Telangiectasia macularis eruptiva perstans (TMEP): A form of cutaneous mastocytosis with potential systemic involvement

Telangiectasia macularis eruptiva perstans: a neglected type of mastocytosis with exclusively cutaneous involvement? A case series.

Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis (CM). Although TMEP has been traditionally thought to be restricted to the skin, a recent retrospective multicentric study established a diagnosis with systemic involvement of mastocytosis in 47% patients affected by TMEP and aggressive systemic mastocytosis in 9%. To evaluate systemic involvement in patients affected by TMEP. We conducted a retrospective monocentric study among patients affected by TMEP visited in our dermatology clinic. Data regarding gender, age at diagnosis, duration of the disease before diagnosis, topography, clinical features, presence of extra-cutaneous symptoms, serum tryptase levels, and histopathological and bone marrow biopsy features were analysed. Among 119 patients classified with mastocytosis, eight patients (six males, two females) with TMEP and one female patient affected by mastocytosis in the skin, a TMEP variant, were retrospectively studied. The mean diagnostic delay was two years (range: 8-26 months). In two patients (25%), bone marrow involvement was identified and osteoporosis and hepatosplenomegaly were also found. The two patients with systemic involvement exhibited a statistically significant increase in serum tryptase levels (p < 0.05). The detection of KIT gene mutation in skin specimens revealed a somatic mutation, KITD816 V, only in these two patients. TMEP is a rare form of CM, often neglected. A correct and early diagnosis of TMEP is important to rule out systemic involvement of the disease. Detection of serum tryptase levels may be a useful, rapid, and non-invasive marker of systemic involvement.

SYSTEMIC MASTOCYTOSIS WITH NORMAL BIOMARKERS. HOW VALUABLE ARE MAST CELL MEDIATORS IN IDENTIFYING DISEASE?

Introduction Systemic Mastocytosis (SM) is a disorder characterized by the excessive accumulation and activation of mast cells (MC) in various organs. Many biomarkers have proven to be helpful in disease screening and diagnosis. Namely, serum tryptase, urinary N-methylhistamine, leukotriene E4 (LTE4) and prostaglandin F2 alpha (PGF2α). Our purpose is to describe a case of Indolent SM (ISM) with normal MC biomarkers. Case Description This is a 30 y.o. female who presented with a 10-year history of headaches, clouding of consciousness, syncope, intermittent abdominal pain, nausea, diarrhea, bone pain, skin flushing and suspected episodes of anaphylaxis. Serum tryptase, 24-hour urinary N-methylhistamine, PGF2α and LTE4 were all within normal limits. Blood molecular studies confirmed KITD816V point mutation. Skin biopsy showed mastocytosis with features of telangiectasia macularis eruptiva perstans. Bone scan was consistent with bony remodeling for MC disease. Ultimately, bone marrow (BM) biopsy showed low-level (25%) exhibiting an atypical spindle shape morphology, immunohistochemistry detected aberrant CD5 and CD2 co-expression confirming SM. Discussion Cutaneous and ISM have a good prognosis with similar survival rates compared to the general population. However, close monitoring may be warranted in SM patients, since a low-rate progression has been reported. The relationship between biomarkers and symptomatology and MC burden is not completely understood nor are the sensitivities of the tests. In the right clinical setting, clinicians should proceed with bone marrow biopsy, immunohistochemistry and molecular studies for a prompt and accurate diagnosis regardless of the status of the above mentioned serum and urine MC biomarkers. Systemic Mastocytosis (SM) is a disorder characterized by the excessive accumulation and activation of mast cells (MC) in various organs. Many biomarkers have proven to be helpful in disease screening and diagnosis. Namely, serum tryptase, urinary N-methylhistamine, leukotriene E4 (LTE4) and prostaglandin F2 alpha (PGF2α). Our purpose is to describe a case of Indolent SM (ISM) with normal MC biomarkers. This is a 30 y.o. female who presented with a 10-year history of headaches, clouding of consciousness, syncope, intermittent abdominal pain, nausea, diarrhea, bone pain, skin flushing and suspected episodes of anaphylaxis. Serum tryptase, 24-hour urinary N-methylhistamine, PGF2α and LTE4 were all within normal limits. Blood molecular studies confirmed KITD816V point mutation. Skin biopsy showed mastocytosis with features of telangiectasia macularis eruptiva perstans. Bone scan was consistent with bony remodeling for MC disease. Ultimately, bone marrow (BM) biopsy showed low-level (25%) exhibiting an atypical spindle shape morphology, immunohistochemistry detected aberrant CD5 and CD2 co-expression confirming SM. Cutaneous and ISM have a good prognosis with similar survival rates compared to the general population. However, close monitoring may be warranted in SM patients, since a low-rate progression has been reported. The relationship between biomarkers and symptomatology and MC burden is not completely understood nor are the sensitivities of the tests. In the right clinical setting, clinicians should proceed with bone marrow biopsy, immunohistochemistry and molecular studies for a prompt and accurate diagnosis regardless of the status of the above mentioned serum and urine MC biomarkers.

Treatment of Telangiectasia Macularis Eruptiva Perstans with an Intense Pulsed Light Device

Telangiectasia macularis eruptiva perstans (TMEP) is a rare adult mastocytosis with prominent cutaneous manifestations including red to brown telangiectatic macules typically on the chest or limbs. TMEP can be a cause of morbidity with associated cutaneous findings (e.g. flushing, pruritus, ulcers) and extracutaneous symptoms (e.g. dyspnea, reflux, diarrhea, hypotension). Previous attempts to treat the cutaneous manifestations of TMEP include PUVA, topical steroids, electron beam radiation, and 585-nm flashlamp-pumped dye laser. We report the first case of successful treatment of the cutaneous findings of TMEP with intense pulsed light (IPL). The patient underwent 2 treatments with IPL spaced 3 months apart, and remained entirely clear at 14 months follow-up.

Childhood Pseudoxanthomatousmastocytosis; Report of two cases

Cutaneous mastocytosis (CM) is a mast cell proliferative disorder that commonly affects pediatric population. It has various clinical forms such as urticaria pigmentosa, solitary mastocytoma, telangiectasia macularis eruptiva perstans, diffuse CM, and erythrodermic mastocytosis. Pseudoxanthomatous mastocytosis is a type of diffuse CM, which is relatively rare. It can mimic xanthoma disseminatum, juvenile xanthogranuloma, and benign cephalic histiocytosis which are also seen commonly in children but have different prognostic behavior. Hence, high degree of clinical suspicion along with histopathology is required for the diagnosis. Herein, we report two cases of childhood pseudoxanthomatous mastocytosis.

Cutaneous collagenous vasculopathy: development after coronary artery bypass surgery

Cutaneous collagenous vasculopathy (CCV) is a rare benign microangiopathy of the superficial dermal vessels. Clinically, it is characterized by widespread, asymptomatic development of cutaneous telangiectasia in the absence of systemic symptoms. Morphologically, it most resembles generalized essential telangiectasia and other telangiectatic syndromes such as telangiectasia macularis eruptiva perstans (TMEP), ataxia telangiectasia, and hereditary hemorrhagic telangiectasia. It is distinctive in its histology, showing characteristic dilated thick-walled blood vessels in the superficial dermis. The thickened walls of these superficial dermal blood vessels demonstrate reduplication of the basement membrane on PAS staining. We report a 63-year-old man with CCV with this condition for 20 years, starting in 1996. He was diagnosed in the past as having essential telangiectasia. The development of the telangectasias occurred after coronary artery bypass grafting, also performed in 1996. This case not only demonstrates the characteristic clinical and histologic findings, but also suggests a possible mechanism. Moreover, it illustrates that cases of generalized essential telangiectasia may in fact be CCV that are misclassified.

Ringed telangiectasias: an unusual presentation of telangiectasia macularis eruptiva perstans

Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis. While most cutaneous mastocytoses occur in children and are asymptomatic, TMEP occurs predominantly in adults and is associated...

Prevalence and risk factors for fragility fracture in systemic mastocytosis

ObjectivesSystemic mastocytosis (SM) is characterized by the accumulation of mast cells in tissues other than the skin. Bone involvement although frequent has not been thoroughly evaluated. Primary objective was to determine risk factors associated with fragility fractures (FF) in SM. Secondary objectives were to evaluate the ability of bone marrow tryptase (BMT) level to identify patients with FF, and to describe bone involvement in SM. MethodsWe analyzed retrospectively all consecutive patients seen in our expert center, with a diagnosis of SM according to the 2001 WHO criteria, and with complete bone assessment. We collected data about lifetime fractures, types of cutaneous manifestations, degranulation symptoms, blood and BMT levels, bone mineral density assessed by densitometry and KIT mutation. We performed a univariate analysis investigating the factors associated with FF and then a logistic multivariable regression analysis. We assessed the ability of bone marrow tryptase to identify patients with FF. ResultsEighty-nine patients with SM were included. Thirty-six patients (40.4%) suffered from osteoporosis and twenty-five (28.1%) experienced lifetime FF. Univariate analysis identified age at diagnosis and disease onset, presence of telangiectasia macularis eruptiva perstans, digestive symptoms, mast cells activation symptoms, elevated BMT, low femoral and lumbar BMD, as associated with FF. Multivariate analysis identified elevated BMT, low femoral T score and older age at diagnosis as independently associated with FF. ConclusionsLow femoral T-score, BMT level, and older age at diagnosis are markers associated with FF in SM. BMT may represent an important biomarker to predict FF in SM patients.

Acquired bilateral telangiectasia macularis eruptiva perstans: A unique clinical feature of photodamaging rather than a subtype of cutaneous mastocytosis.

Telangiectasia macularis eruptiva perstans (TMEP) is a rare subtype of cutaneous mastocytosis, characterized by telangiectatic tan to brown macules on the trunk and extremities. Although TMEP has been descried as an uncommon disease in the literature, we often encounter patients with TMEP lesions in the outpatient clinic. We aimed to assess the clinical and histopathological characteristics of acquired bilateral TMEP, and the pathophysiological mechanism of acquired bilateral TMEP among these patients. We retrospectively reviewed 30 patients (28 men and 2 women) with acquired bilateral TMEP; multiple telangiectatic dark red to brown macules that were symmetrically distributed. The clinical characteristics and general histopathological findings of lesional skin were investigated. The number of mast cells was evaluated using immunohistochemical analysis with an antibody directed against c-kit (CD117). Acquired bilateral TMEP was predominantly localized on the sun-exposed area: the upper arm in 30 patients (100%), forearm in 19 patients (63.3%) and anterior chest in 15 patients (50%). A total of 16 patients (53.3%) showed at least one aggravating factor, including UV irradiation, alcohol use and heat exposure. Compared with the mast cell numbers in 19 age- and biopsy site-matched healthy controls (91 ± 29.0/mm2 ), the number of mast cells in the papillary dermal skin of acquired bilateral TMEP patients was significantly increased (159 ± 37.2/mm2 , P < 0.01). In addition, a significant difference in vessel numbers in the papillary dermis was observed between acquired bilateral TMEP patients and healthy controls (10.5 ± 1.9 vs 5.4 ± 1.0/mm2 , P < 0.01). Acquired bilateral TMEP is a relatively common disorder in middle-aged Asian men. An increased number of mast cells and dilated vessels might be a photoaging-related reactive process of chronic sun-exposure, which consequently leads to the formation of characteristic telangiectatic hyperpigmentary macules through certain melanogenic mediators.

Telangiectasia macularis eruptiva perstans: an old terminology, still frequently used

The term telangiectasia macularis eruptiva perstans (TMEP) was originally used to describe a rare form of cutaneous mastocytosis (CM) that was limited to the skin with lesions consisting of irregular, telangiectatic macules ranging in color from red to brown. Recent guidelines, however, recommended that the sole presence of telangiectasias should not form the basis of a distinct variant of CM. We conducted a review of the literature from 1930 to 2017 and found 76 cases that were reported as TMEP. Owing to a general misconception about diagnosis of CM and SM, there is a need for further discussion and awareness of the newly proposed World Health Organization (WHO) guidelines.

P342 Adult onset cutaneous mastocytosis, rare but real

Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis that affects adults.