Lines Of Blaschko Research Articles

Management of Naevoid Conditions Following the Lines of Blaschko in Paediatric Age Group.

Management of Naevoid Conditions Following the Lines of Blaschko in Paediatric Age Group.

Pigmentation in Plexiform Neurofibroma Following Blaschko's Lines: A New Observation.

Pigmentation in Plexiform Neurofibroma Following Blaschko's Lines: A New Observation.

More about Zlotnikov, the Man Who Explained Blaschko's Lines to be a Mosaic.

More about Zlotnikov, the Man Who Explained Blaschko's Lines to be a Mosaic.

Simultaneous Occurrence of Lichen Nitidus and Morphea

Lichen nitidus and morphea are common diseases, but an associated localization of both lesions is rare. Here, we describe the first case of lesions distributed along Blaschko's lines. A 24-year-old Japanese woman was referred to our clinic for evaluation of band-like plaques of 18-months history on the right lateral side of her abdomen. In addition, multiple milky-white papules were seen within the plaques. Histopathological examination showed there was sclerosis in the lower half of the dermis and well-circumscribed, dense, papillary dermal lymphohistiocytic aggregations showing a so-called "claw clutching a ball." Immunohistochemical analysis revealed that the morphea and lichen nitidus had similar characteristics. We speculated that unique immunologic events led to the development of lichen nitidus and morphea in our patient.

Porokeratotic eccrine ostial and dermal duct nevus: A rare case report

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is an uncommon benign disorder that clinically mimicks comedo nevus but usually favors the palms and soles, where pilosebaceous follicles are absent. It also can present with widespread involvement along Blaschko's lines. It is a disorder of keratinisation involving the intraepidermal eccrine duct (acrosyringium) with classical histopathological examination findings (eccrine hamartoma and cornoid lamellation). The patient is a 32-year-old woman with a 12-year history of pruritic skin lesions on her right palm and index finger. Histopathological examination revealed multiple small epidermal invaginations with overlying parakeratotic cornoid lamellation and loss of granular layer. Few dyskeratotic cells are seen at the base of epidermal invagination. After clinic-pathologic correlation, the diagnosis of PEODDN was made. Late-onset and rare clinical presentation as pruritic lesion are the characteristic features that make this patient an extraordinary presentation of PEODDN.

A Rare Case of Tumid Lupus Erythematosus with Unilateral Linear Distribution in A Young Child

Tumid lupus erythematosus (TLE) as a rare variant of cutaneous lupus erythematosus (CLE) is characterized by edematous, urticarial-like annular papules and plaques. TLE has similar histopathologic findings to CLE such as periadnexal lymphocytic infiltration and interstitial mucin deposition. Although TLE develops on sun-exposed areas at any age, it is rarely distributed along the Blaschko lines and develops in infancy and childhood. Unlike CLE, skin lesion of TLE heals without leaving scarring or dyspigmentation. Here, we report a rare case of unilateral linear TLE in a 4-year-old girl, which was improved by intralesional corticosteroid injection and oral antimalarial drug with leaving postinflammatory hyperpigmentation.

A Rare Case of Bilateral Inflammatory Linear Verrucous Epidermal Nevus

Inflammatory linear verrucous epidermal nevus (ILVEN) is rare, mosaicism-induced linear inflammatory dermatoses with early childhood presentation and persistence for whole life in majority of cases. No definite gene or genetic locus has been nominated yet. Treatment is mostly aimed for relief of symptoms and for cosmetic concerns.Here, authors are reporting a case of 6-year-old girl presented with history of extremely pruritic, erythematous, linear plaques following the lines of Blaschko over all 4 limbs, trunk and flexures since infancy.Clinical impression of bilateral ILVEN was confirmed by histopathology. No systemic abnormality was detected.Bilateral ILVEN is extremely rare entity and it should be documented whenever encounter.

Congenital circumscribed basaloid follicular hamartoma.

Basaloid follicular hamartoma is characterized by well-defined pathological findings, consisting of strands of basaloid cells connected with the hair follicles and immersed in a concentric loose stroma. It differs from basal cell carcinoma for the absence of clefts between the neoformation and the stroma and for the lack of mitosis and nuclear atypia (2). On the other hand, the clinical features are extremely variable going from generalized forms with autosomal dominant transmission, often associated with skeletal malformations, to nevoid forms distributed along the lines of Blaschko, to congenital, as in our case, or acquired circumscribed lesions. The individual lesions have no clinical characteristics (1), as they may be papules, nodules, plaques or dyschromic lesions, so the diagnosis often comes from the histological examination.

Linear Atrophoderma of Moulin Localized to Face: An Exceedingly Rare Entity

Introduction: Linear atrophoderma of Moulin (LAM) is a rare dermatologic disorder characterized by hyperpigmented atrophic plaques following the Blaschko lines (BL). The trunk and limbs are the usual sites affected. Isolated facial involvement is an exceedingly rare entity. Despite a comprehensive medical literature search, the author could find only two cases of LAM where the lesions are exclusively localized to the face. In this article, the author presents the third case of LAM localized to face only. Case Presentation: A 26-year-old male complained of multiple linear non-pruritic pigmented lesions over the left side of the nose and glabellar area of six months’ duration. There was no history of erythema, thickening/hardening of skin, or violaceous border surrounding the lesions. On clinical examination, there were multiple hyperpigmented brownish lesions, the majority of which were depressed, involving the left ala and bridge of nose laterally and glabellar area in a Blaschkoid pattern. Diagnosis of LAM was established based on suggestive history and clinical examination. Conclusions: LAM is a rare disorder, and the facial localization makes it exceedingly rare. It should be kept in the differential diagnosis when hyperpigmented depressed lesions are present in a Blaschkoid pattern on the face.

A 73-Year-Old With a Linear Rash

A 73-year-old man with a history of bilateral hip replacements developed a unilateral, asymptomatic skin eruption on his left buttock 3 months after a left hip revision. Over the ensuing 3 years, he noticed mild irritation with heat exposure. Hydrocortisone 1% cream provided no benefit. Skin examination revealed linear pink to brown papules with overlying scale, which did not involve his previous surgical scar site (Figure 1). The clinical differential diagnosis included linear lichen planus, lichen striatus, persistent postherpetic granulomatous skin eruption, or other linear skin entities. Punch biopsy showed acantholytic dyskeratosis. A diagnosis of segmental Darier disease (DD) was made (Figure 2).Figure 2Histopathology of the linear rash showed (A) focal acantholysis (black arrows) within the epidermis. B, Acantholysis is occurring just above the basal layer of the epidermis (yellow arrow). There is dyskeratosis with characteristic “corp ronds” (long black arrow) and “grains” (short black arrow). (Hematoxylin and eosin stain [A] 10x original magnification, [B] 20x original magnification.)View Large Image Figure ViewerDownload Hi-res image Download (PPT) DD, a disease of keratinocyte adhesion, presents with grouped keratotic papules that are aggravated by heat and sweating and tends to develop during the third to fourth decades.1Burge S. Wilkinson J. Darier-White disease: a review of the clinical features in 163 patients.J Am Acad Dermatol. 1992; 27: 40-50Abstract Full Text PDF PubMed Google Scholar DD affects the body symmetrically. Segmental DD, however, presents with lesions arranged along the lines of Blaschko (segmental distribution). Diagnosis may be delayed because of the rarity of this entity. DD is an autosomal dominant genodermatosis caused by germline mutations in the ATP2A2 gene, which causes haploinsufficiency of epidermal calcium ATPase.2Sartori-Valinotti J. Peters M. Wieland C. Segmental type 1 Darier disease: a case series highlighting late-onset disease.Br J Dermatol. 2015; 173: 587-589Crossref PubMed Scopus (6) Google Scholar Segmental DD is thought to be caused by genetic mosaicism of the same gene. This mutation leads to keratinocyte discohesion and acantholytic dyskeratosis (rounding up and separation of individual keratinocytes, with accompanying abnormal keratinization), features that can be observed microscopically with skin biopsy (Figure 2).2Sartori-Valinotti J. Peters M. Wieland C. Segmental type 1 Darier disease: a case series highlighting late-onset disease.Br J Dermatol. 2015; 173: 587-589Crossref PubMed Scopus (6) Google Scholar, 3Harboe T. Willems P. Jespergaard C. Mølgaard M. Sørensen F. Bisgaard M. Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues.Dermatology. 2011; 222: 292-296Crossref PubMed Scopus (15) Google Scholar, 4Pels I. Goodman M. Criteria for the histologic diagnosis of keratosis follicularis (Darier): report of a case with vesiculation.Arch Derm Syphilol. 1939; 39: 438-455Crossref Scopus (7) Google Scholar DD has a chronic course, and the goal of treatment is to limit exacerbations and prevent secondary infections.5Vogt K. Lohse C. El-Azhary R. et al.Kaposi varicelliform eruption in patients with Darier disease: a 20-year retrospective study.J Am Acad Dermatol. 2015; 72: 481-484Abstract Full Text Full Text PDF PubMed Google Scholar

Congenital segmental lichen sclerosus et atrophicus.

In the literature there are about ten cases of lichen sclerosus (LS) distributed along the lines of Blaschko or in any case segmental, but none is congenital or diagnosed in the child. LS is considered an autoimmune disease, both because it is frequently associated with other autoimmune disorders and because autoantibodies against extracellular matrix protein 1 have been demonstrated (2). Like many other autoimmune diseases – psoriasis, lupus erythematosus, scleroderma, vitiligo etc. – even LS, although not frequently, can be distributed unilaterally according to Blaschko’s lines; cases of vitiligo on one segment and lichen sclerosus on another segment of the same patient have also been described (1). This distribution is expression of a mosaicism due to a post-zygotic mutation. As regards topical treatment, though LS responds well to corticosteroids, we prefer tacrolimus to not accentuate its atrophic tendency.

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation

The MTOR gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. Postzygotic MTOR variants result in various mosaic phenotypes, referred to in OMIM as Smith-Kinsgmore syndrome or focal cortical dysplasia. We report here the case of a patient, with an MTOR mosaic gain-of-function variant (p.Glu2419Lys) in the DNA of 41% skin cells, who received compassionate off-label treatment with everolimus for refractory epilepsy. This 12-year-old-girl presented with psychomotor regression, intractable seizures, hypopigmentation along Blaschko's lines (hypomelanosis of Ito), asymmetric regional body overgrowth, and ocular anomalies, as well as left cerebral hemispheric hypertrophy with some focal underlying migration disorders. In response to the patient's increasingly frequent epileptic seizures, everolimus was initiated (after approval from the hospital ethics committee) at 5 mg/day and progressively increased to 12.5 mg/day. After 5 months of close monitoring (including neuropsychological and electroencephalographic assessment), no decrease in seizure frequency was observed. Though the physiopathological rationale was good, no significant clinical response was noticed under everolimus treatment. A clinical trial would be needed to draw conclusions, but, because the phenotype is extremely rare, it would certainly need to be conducted on an international scale.

Porokeratotic eccrine ostial and dermal duct nevus with extensive linear distribution: a case report

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is known as an uncommon disorder of keratinization in which acrosyringium is involved; however, its causes have yet remained unknown. It is presented clinically by discrete keratotic papules on distal extremities arranged in a linear pattern along Blaschko lines. Histopathologically, it is characterized by cornoid lamella, which is almost always located overlying an acrosyringium. We present a case with an unusual presentation of extensive PEODDN lesions along the lower extremity. Our case was a young woman presented with multiple keratotic elevated papules on her left sole since her birth. In continuity with the lesions on her sole, a linear plaque was extended up to her buttock. Histopathology showed hyperkeratosis with cornoid lamella overlying the acrosyringium. The rarity of PEODDN and interesting presentation of the lesions on the sole of our patient with extension in a linear Blaschko pattern up to her buttock resembling verrucous linear epidermal nevus encouraged us to present this case.

Incontinentia pigmenti: multisistemic genodermatosis.

Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells) protein from migrating to the nucleus to begin the transcription of factors that amplify the immune response and prevent apoptosis. Consequently, mutant cells become vulnerable to apoptosis when exposed to cytokines and, in turn, lead to vaso-occlusion and ischemia of tissues, such as the skin, the central nervous system and the retina. Dermatological lesions are characteristic and occur in 100% of patients; they are distributed along Blaschko lines, which follow the pattern of migration of skin cells in embryogenesis. The cutaneous manifestations follow a sequence of four phases since birth: vesicular, verrucous, hyperpigmented and hypopigmented. These lesions are relevant for the disease because they guide the clinician towards the diagnosis. Additionally, they are accompanied by neurological abnormalities, such as seizures, and multiple ophthalmological manifestations, such as retinal detachment. Incontinentia pigmenti patients with no clinically significant ophthalmic or neurological compromise have a good prognosis and a normal life expectancy. The abnormalities present are permanent, which can be a cause of concern for the patients.

Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature

Incontinentia pigmenti (IP) or Bloch–Sulzberger’s disease is a rare neurocutaneous syndrome with dermatological, neurologic, and systemic manifestations including retinal, dental and hair abnormalities. It follows X-linked dominant inheritance and predominantly affects female children. The characteristic evolution of skin lesions in four stages is a hallmark diagnostic feature of the disease. The pigmented lesions of IP are usually distributed in linear streaks, macular whorls, reticulated patches, and flecks along the Blaschko lines. Neurologic morbidities are found in a considerable proportion of affected children, and the spectrum includes seizures, neuromotor impairment, microcephaly, developmental delay, and intellectual disability. Seizures are reported in 10% to 25% of children with IP in various previous clinical studies. The majority of these children had seizures in the neonatal period or early infancy, and focal–clonic seizure is the commonest observed semiology. However, there are only a few case reports of infants with IP with epileptic spasms. In this report, the clinical course of a 6-month-old girl with IP and epileptic spasms has been described, who responded favorably to treatment with adrenocorticotropic hormone injection. Clinicians managing children with IP should be aware of their predisposition to develop epileptic spasms and consider neuroimaging, electroencephalogram, and other investigations accordingly.

Linear patterns of the skin and their dermatoses.

Knowledge about the linear patterns of the skin is a key competence of dermatologists. Four major groups of linear patterns can be distinguished: Langer lines, dermatomes, Blaschko lines and exogenous patterns. Langer lines run in the direction of the underlying collagen fibers (least skin tension) and play an important diagnostic role for some exanthematous skin diseases. In the thoracodorsal region, the distribution of the Langer lines gives rise to what is referred to as a 'Christmas tree pattern'. A dermatome is an area of skin that is supplied by a single spinal nerve. Disorders with a neuronal origin follow this pattern of distribution. The lines of Blaschko delineate the lines of migration of epidermal cells during embryogenesis. Exogenous linear patterns are caused by external factors. The present CME article will highlight important skin disorders that primarily present in the form of one of the aforementioned patterns. In addition, we will also address skin conditions that may secondarily follow with these patterns (or distinctly not do so) as the result of various mechanisms such as the Koebner phenomenon, reverse Koebner phenomenon, and Wolf's isotopic response.

A Rare Case of Mainly Unilateral Focal Dermal Hypoplasia (Goltz Syndrome) in an Adult Male: A Case Report and Review of the Literature

Focal dermal hypoplasia (Goltz syndrome), is an exceedingly rare X-linked dominant genetic disorder. It is a multisystem disease, but it is hallmarked by characteristic skin changes. Focal dermal hypoplasia typically occurs in females (90%), and males are thought to only survive through having either a sporadic new mutation or somatic mosaicism. This report details a 48-year-old male diagnosed with predominately unilateral focal dermal hypoplasia that was reviewed decades post his initial diagnosis. He presented with multiple atrophic hyperpigmented macules and fat herniation along the lines of Blaschko, across primarily the right side of the body. Skin biopsy is the mainstay for the diagnosis and therefore dermatologists need to be aware of the classical cutaneous findings of familial dermal hypoplasia to ensure accurate diagnosis. Familial dermal hypoplasia is best managed through the collective minds of multidisciplinary teams. J Med Cases. 2020;11(3):61-64 doi: https://doi.org/10.14740/jmc3442

Nonsegmental vitiligo follows Blaschko's lines and embryonic pigmentary segments.

Pathogenic mechanism that determines the localization of vitiligo patches and thus a patterned distribution in patients with nonsegmental vitiligo has remained poorly elucidated. A distributional similarity of the vitiligo patches with Blaschko's lines has been documented in patients with segmental vitiligo, both isolated segmental vitiligo and mixed vitiligo but never in cases of nonsegmental vitiligo. Distribution of nonsegmental vitiligo patches on face and neck regions was assessed and compared with Blaschko's lines and also with embryonic pigmentary segments on the face. This study has documented distributional similarity of the nonsegmental vitiligo patches on face and neck with Blaschko's lines and the "embryonic pigmentary segments" among 154 (58.6%) cases. Patches around the palpebral and other fissures like periorbital, perinasal, perioral, and periaural were more common. In addition to the vitiligo patches, the spared areas were also found to respect the embryonic segmental outlines and follow the Blaschko's lines. Distributional pattern of the individual nonsegmental vitiligo patches along the Blaschko's lines and embryonic pigmentary segments suggests that mosaicism might control the susceptibility to the disease process in a patterned manner. No genetic testing could be performed to confirm the hypothesis. Evaluation of nonsegmental vitiligo was done only on the face and neck areas.

Pigmented linear discoid lupus erythematosus following the lines of Blaschko: A retrospective study of a Chinese series.

Linear cutaneous lupus erythematosus is a rare subtype of lupus erythematosus (LE) that develops linear lesions following the lines of Blaschko. Linear cutaneous lupus erythematosus may present as various subtypes of LE, including linear discoid lupus erythematosus. There are few reports about pigmentedlinear discoid lupus erythematosus in the literature. We aimed to summarize the clinical and pathological features of patients with pigmented linear discoid lupus erythematosus following the lines of Blaschko. Eighteen patients with pigmented linear discoid lupus erythematosus attending the outpatient department of the Dermatology, Peking Union Medical College Hospital, China, were enrolled in the study. We recorded clinical data including sex, age at onset, disease duration, location and distribution of the lesions, symptoms, trigger factors, antinuclear antibody (ANA) testing, therapy, and therapeutic responses. Histopathological features were also summarized. All 18 patients presented with well-defined brownish pigmented linear or segmental macules or plaques, following the lines of Blaschko. All the lesions were located on the head or neck. Unilaterally distributed lesions were found in 94.4% of patients. Two patients showed low titers of ANA in a speckled pattern. No systemic involvement or progression to systemic LE was noted. The patients were clinically diagnosed as pigmented lichen planus (55.6%), pigmented linear discoid lupus erythematosus (33.3%), and linear morphea (11.1%) before histopathological examination. The study was retrospective and direct immunofluorescence was not performed. Not all patients' information was available and 4 patients were lost to follow-up because their contact information was changed. Pigmented linear discoid lupus erythematosus mostly occurs on the head and neck. It manifests as brownish macules along the lines of Blaschko. Differentiation between pigmented linear discoid lupus erythematosus and other dermatoses that have a linear distribution can be difficult both clinically and pathologically, but histological details can help distinguish them.

A Rare Case of Mainly Unilateral Focal Dermal Hypoplasia (Goltz Syndrome) in an Adult Male: A Case Report and Review of the Literature

Focal dermal hypoplasia (Goltz syndrome), is an exceedingly rare X-linked dominant genetic disorder. It is a multisystem disease, but it is hallmarked by characteristic skin changes. Focal dermal hypoplasia typically occurs in females (90%), and males are thought to only survive through having either a sporadic new mutation or somatic mosaicism. This report details a 48-year-old male diagnosed with predominately unilateral focal dermal hypoplasia that was reviewed decades post his initial diagnosis. He presented with multiple atrophic hyperpigmented macules and fat herniation along the lines of Blaschko, across primarily the right side of the body. Skin biopsy is the mainstay for the diagnosis and therefore dermatologists need to be aware of the classical cutaneous findings of familial dermal hypoplasia to ensure accurate diagnosis. Familial dermal hypoplasia is best managed through the collective minds of multidisciplinary teams.