Cutis Marmorata Telangiectatica Congenita Research Articles

Cutis marmorata telangiectatica congenita in a newborn: A differential diagnosis.

Cutis marmorata telangiectatica congenita in a newborn: A differential diagnosis.

Persistent Cutis Marmorata Telangiectatica Congenita Associated with Isolated Hemihypertrophy and Edema Attacks.

Persistent Cutis Marmorata Telangiectatica Congenita Associated with Isolated Hemihypertrophy and Edema Attacks.

Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition.

Cutis marmorata telangiectatica congenita (CMTC) is a capillary malformation characterized by congenital, reticulated, well-demarcated dark blue, red-purple, or violaceous macules or plaques, with a coarse fixed livedo pattern. Nearly always, contiguous areas of skin atrophy and/or ulceration are present. CMTC is usually localized but may rarely be generalized. Such generalized cases may be a feature of Adams-Oliver syndrome (AOS). The nosologic confusion surrounding the term CMTC and uncertainty about the risk of associated abnormalities hinders the appropriate workup of patients and prognostic counseling for families. We hypothesized that the risk of associated anomalies in children with localized CMTC is very low. We performed a literature review and retrospective review of patients with CMTC to propose a more precise clinical definition and ascertain the risk of associated anomalies. We included 78 patients determined to have a diagnosis of CMTC based on consensus. The majority of patients had localized CMTC. Most patients with generalized CMTC met the criteria for the diagnosis of AOS. The associations found in patients with localized CMTC were mostly dermatological, with atrophy, ulcerations, or erosions present in 71%. Extracutaneous findings were present in 34.4% of patients and consisted mainly of extremity asymmetry (24.5%) that improved over time. Our study showed a very low frequency of extracutaneous anomalies among patients with localized CTMC, ipsilateral limb discrepancy being the most common. We did not find a strong association with any other visceral anomalies that would justify routine evaluation in patients with localized CMTC.

Congenital Phlebectasia of Internal Jugular Vein

The internal jugular vein ectasia, or phebectasia as it is also called, is a rare entity that consists of the fusiform dilatation of the vein. Due to their thin walls, veins are often prone to dilation. In the neck, this dilation becomes apparent during the Valsalva maneuver, leading to the appearance of cervical enlargement. We report the case of a 8 old year child, presented a phlebectasia of the internal jugular vein. The clinical examination reveals a soft right-sided lateral cervical mass that increases in volume during the Valsalva maneuver. The diagnosis of internal jugular phlebectasia was confirmed by an CT angiography, which reveals a fusiform dilation of the internal jugular vein without complication.

Update on nevi and nevoid skin disorders

Autosomal dominant transmission with sex-limited manifestation represents apreviously unrecognized mode of inheritance. The white lentiginosis of Grosshans exclusively occurs in females, whereas male gene carriers remain clinically unaffected but can transmit the underlying mutation to their offspring. There are some other examples: Hereditary bilateral lymphedema of the CELSR1 type that only occurs in females, too. Unlike common sebaceous nevus (HRAS or KRAS mutations), cerebriform sebaceous nevus is caused by apostzygotic lethal FGFR2 mutation. Cutis marmorata telangiectatica congenita and reticular capillary nevus have previously been considered one single entity. Today, their dichotomy is proven at the molecular level. It is important to be aware of the new port-wine nevus of the AKT3 type because this anomaly may constitute acutaneous marker of severe congenital brain defects. The newly described transient abdominal telangiectasia in newborns can easily be mistaken as acapillary nevus, but represents an innocuous neonatal phenomenon that spontaneously fades away within the first three months.

Unilateral erythema in a newborn

A 10-day-old newborn male was referred to our clinic for the evaluation of congenital dermal melanocytosis. During the physical examination, when the baby was lying on his side, a sharply demarcated erythema involving half of his body was noticed (Figure 1). The change of colour lasted a few minutes. The baby was otherwise healthy, and no additional signs were observed. The baby's mother reported only one other isolated similar episode of about the same duration occurring at home when the baby was lying naked on the changing table. HP is a rare event that consists of a sudden unilateral transient change in skin colour with a sharp demarcation along the body midline, resulting in two different body colours.1 HP usually occurs between the 3rd and 4th day of life, and typically appears when the baby is lying on the side and may last from 30 s up to 20 min. It can be a single event or it can be recurrent. Newborns can experience several episodes in just a few days.2 Pathophysiology of HP is still not completely clear although there is evidence to support a sympathetic autonomic dysfunction, probably because of hypothalamic immaturity in the newborn.2 HP represents a benign condition although it has also been reported in the context of hypoxia and as an epiphenomenon of central nervous system disorders such as meningitis, hypothalamic and brain stem lesions or sympathetic nervous system lesions. Exacerbation has been described in patients receiving treatment with prostaglandin E1.1, 3 While the clinical characteristics of HP make it easily distinguishable, a differential diagnosis should include infectious neonatal skin rashes, such as parechovirus, herpes virus and candida infection, neonatal lupus erythematosus and capillary malformations such as those in the PROS spectrum and cutis marmorata telangiectatica congenita. HP can be a manifestation of the rare disorder paroxysmal extreme pain disorder, part of SCN9A neuropathic pain syndromes, a group of sodium channelopathies where systemic symptoms such as tonic nonepileptic attacks and syncope with bradycardia are associated with the transient skin colour change.4 HP is a benign and self-resolving phenomenon. As mentioned, only in rare circumstances HP is a manifestation of central nervous system disorders in association with other signs and symptoms and never presenting as the sole clue of such conditions.5 The recognition of the phenomenon is therefore important since, while being certainly peculiar, it does not require further investigations or therapeutic measures. Alice Nadia Rossi wrote the first draft of the manuscript and adjusted it according to the comments of the other authors. Francesco Paolo Salamone collected data and clinical images and helped writing the manuscript. Martina Mussi participated in data collection. Marco Adriano Chessa participated in the revision of the manuscript. Iria Neri carried out the final revision of the manuscript before submission. All of the authors participated in the preparation of the manuscript. There are no prior publications or submissions with any overlapping information, including studies and patients. This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors. The authors declare no conflicts of interest. All patients in this manuscript have given written informed consent for participation in the study and the use of their de-identified, anonymized, aggregated data and their case details (including photographs) for publication. Data sharing is not applicable to this article as no new data were created or analysed in this study.

Persistent Generalized Cutis Marmorata Telangiectatica Congenita with Venectasia.

Persistent Generalized Cutis Marmorata Telangiectatica Congenita with Venectasia.

Cutis marmorata telangiectatica congenita on hand and forearm: Initial and follow-up observations of a rare case

Cutis marmorata telangiectatica congenita on hand and forearm: Initial and follow-up observations of a rare case

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations

Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease usually occurs sporadically, the concept of a lethal mutation surviving by mosaicism was proposed about 30 years ago. Here we describe three children with CMTC due to a postzygotic GNA11 mutation c547C > T (p.Arg183Cys), documented in saliva (patient 1) or lesional cutaneous tissue (patients 2 and 3). All three individuals had widespread and asymmetric CMTC which was present from birth and became fainter during the first years of life. Variably associated anomalies included glaucoma, choroidal capillary malformation, and body asymmetry. In previous case reports, postzygotic GNA11 mutations were documented in two cases of phacomatosis cesiomarmorata, being characterized by CMTC coexisting with segmental dermal melanocytosis. Moreover, postzygotic GNA11 mutations were noted in two CMTC patients described under the incorrect diagnosis of “nevus vascularis mixtus”. Hence, the present cases convincingly support the concept that CMTC can be caused by mosaic GNA11 mutations and thus belongs to the GNA11-Related Capillary Nevus (GNARCAN) spectrum. In two other bona fide cases of CMTC, however, we were unable to find a mutation in GNA11, which may be explained either by our inability to detect a very low percentage of mutant cells or by genetic heterogeneity of the phenotype.

Van Lohuizen Syndrome, a Late-Diagnosed Case in an 18 Years-Old Female

Cutis Marmorata Telangiectatica Congenita is a very rare birth defect involving cutaneous blood vessels. Of unknown cause, uncertain pathophysiology, unclear epidemiology. Described as a localized, or generalized marbled skin appearance (cutis marmarota), in addition to the skin, it may involve any other body organs, with, or without a wide variety of associated congenital anomalies.Kato van Lohuizen described the first case in 1922. Since then, there have been less than 300 cases reported worldwide to date. We are adding one more case, and the first reported in Libya.

Characterization of Clinical Outcomes in Patients with Cutis Marmorata Telangiectatica Congenita

Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, cutaneous vascular disease with an unknown pathogenesis. Although considered as a benign condition, anomalies such as body asymmetry are frequently associated. Herein we present a series of patient with diagnosis of CMTC with a focus on clinical outcomes. In our series, limb length abnormalities were the most common associate anomaly, occurring in 24% of the subjects, similar to other series with rates of 33% and 27% but higher than the general population (6.7%). Importantly, dermatologist should be aware of the frequently associated anomalies in CMTC, such as leg length discrepancy, which may have serious consequences if not recognized and treated.
 

Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies

Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies

Van Lohuizen Syndrome: A Late-Diagnosed Case in 18 Years Old Female

Van Lohuizen Syndrome: A Late-Diagnosed Case in 18 Years Old Female

Cutis Marmorata Telangiectatica Congenita Associated with Hemiatrophy

Cutis marmorata telangiectatica congenita is characterized by the presence of a bluish-purple reticulated cutaneous vascular network on the skin intermixed with telangiectasia and occasionally prominent veins at birth. Areas of the skin within the reticulated cutaneous vascular network may be normal, erythematous, atrophic, and, at times, ulcerated. Areas of ulcerations and focal cutaneous and subcutaneous atrophy occasionally occur resulting in body asymmetry. On the other hand, cutaneous and subcutaneous atrophy, extensive and severe enough leading to hemiatrophy, of the entire limb is rare. A search of the English literature revealed only eight documented cases to which we are adding two more cases.

Cutis marmorata telangiectasia congenita-a needle in the neonatal dermatology haystack?

Cutis Marmorata Telangiectasia Congenita (CMTC, also known as van Lohuizen syndrome) is a rare disorder characterised by dilatation of the cutaneous vasculature. This results in a blue-purple ‘marbled’ appearance of the skin due to telangiectasia, phlebectasia and persistent cutis marmorata. It is often mistaken for benign cutis marmorata and is therefore likely underdiagnosed. CMTC can occur in connection with other dysmorphic findings in several syndromes (e.g. Adams-Olivers) or in isolation. We review the evidence surrounding the epidemiology, pathophysiology and management of isolated CMTC, and contextualize it with a case.

Cutis marmorata telangiectatica congenita with limb defects, cleft palate, and ambiguous genitalia

Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, vascular malformation first described by van Lohuizen in 1922. CMTC is an infrequently reported congenital cutaneous disorder and is usually present at birth but can appear up to 3 months to 2 years of age. Hereby, we report a case of a 2-day-old infant with CMTC involving trunk with rarely reported congenital anomaly involving multiple system, i.e., musculoskeletal, cardiovascular, pulmonary, ophthalmic, excretory, oropharyngeal, and reproductive system.

Cutis marmorata telangiectasia congenita with painful ulcerations

Cutis marmorata telangiectatica congenita (CMTC) is a rare, congenital, vascular disorder that may sometimes be associated with ulcerations of the involved skin. We present a case of CMTC, asymptomatic since birth, that began developing painful ulcerations during adolescence. Although laser therapy may benefit the superficial aspect of this vascular anomaly, the presence of deeper involvement in lesions with ulcerations may not respond favorably to laser therapy and the best approach needs to be further evaluated.

Ophthalmologic alterations in cutis marmorata telangiectatica congenita: a series of cases.

Cutis marmorata telangiectasia congenita is a rare cutaneous vascular disorder that may be associated with different systemic manifestations like body asymmetry, cutaneous, ophthalmologic, vascular, and neurological manifestations. We describe ophthalmologic alterations found in three patients with cutis marmorata telangiectatica congenita highlighting the rare retinal manifestations.

Syndromes with vascular skin anomalies

In many complex genetic syndromes, various distinct capillary nevi may serve as diagnostic clues. To render dermatologists in practice capable of recognizing and classifying such cutaneous markers. On the basis of the literature and own observations, this review describes 14 different syndromes associated with capillary nevi that can be recognized by dermatologists as adiagnostic indication. The following capillary nevi can be distinguished for syndrome recognition: nevus flammeus of the Sturge-Weber syndrome (GNAQ), port-wine nevus of the Proteus type (AKT1), port-wine nevus of the PIK3CA-related overgrowth spectrum (PROS) type, midfacial port-wine patch of the PROS type, reticulate capillary nevus heralding megalencephaly-capillary nevus syndrome that is likewise part of PROS, cutis marmorata telangiectatica congenita (van Lohuizen syndrome), nevus roseus, nevus vascularis mixtus, rhodoid nevus (RASA1), nevus anemicus as adiagnostic indication of neurofibromatosis1 and Carter-Mirzaa macules (STAMBP). Adiagnostic difficulty lies in the fact that not all syndromes associated with capillary nevi have been elucidated at the molecular level. For this reason, the preliminary dimension of the present review should be borne in mind. On the other hand, dermatologists in practice now have the fascinating chance to stimulate further advances in this particular field of knowledge by asking experts in dermatology, pediatrics or medical genetics how to solve the problem of molecular syndrome recognition in apuzzling case.

Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients.

Introduction:Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome characterized by the simultaneous presence of capillary malformation and pigmentary nevi. The objective of our study was to describe the clinical characteristics of a series of Indian patients presenting with this rare entity.Materials and Methods:It was a record-based descriptive case series.Results:A total of 11 patients with PPV (9 females, 2 males, age range: 7 days to 45 years; mean 11.6 years) were studied. Port wine stain was present in 10 (91%) patients and one patient (9%) had cutis marmorata telangiectatica congenita. Isolated nevi of Ota and Mongolian spots were seen in 4 (36%) patients each. Simultaneous presence of both Mongolian spots and nevus of Ota was present in 1 (9%) patient. The combination of Mongolian spots and bilateral palatal hyper-melanosis was noticed in 2 (18%) patients. Café au lait macule was present in one patient. Bilateral ocular melanosis was found in 3 (27%) patients. Unilateral ocular melanosis was noticed in 4 (36%) patients. Two patients (18%) had history of seizure disorder and intracranial vascular anomalies on MRI imaging. Two patients (18%) had features of Klippel-Trenaunay syndrome. According to the traditional classification, three patients had PPV type 2b, one patient had PPV type 5b, and seven patients had PPV type 2a. According to the Happle's classification, 10 patients had PPV of cesio flammea type, and one patient had PPV of cesio marmorata type.Limitations:We could not perform genetic study of the patients.Conclusion:Our findings emphasize the importance of detailed systemic evaluation including ocular examination and brain imaging in every patient of PPV.