Lines Of Blaschko Research Articles

Linear verrucous epidermal nevus with oral manifestations: report of two cases

Linear verrucous epidermal nevi (LVEN) are characterized by verrucous papules often coalescing into well-demarcated skin-colored or brown plaques following the lines of Blaschko. We present two new cases of LVEN with oral mucosa involvement and briefly discuss this very rare finding. In both cases, oral biopsies showed hyperkeratosis, acanthosis, and papillomatosis. Although several treatment modalities have been reported for the cutaneous lesions, there is no consensus for the management of oral lesions so far.

A case of extragenital linear lichen sclerosus along the lines of Blaschko responding to methotrexate

Lichen sclerosus, a rare, chronic, inflammatory, mucocutaneous disorder of the genital and extragenital skin, is usually asymptomatic and affects both sexes. The exact cause of lichen sclerosus is unknown. Extragenital lichen sclerosus may be localized or disseminated. Linear extragenital lichen sclerosus following the lines of Blaschko is an exceptionally rare form. A 66-year-old female patient presented with a sclerotic plaque extending from the dorsum of the right hand toward the elbow. The lesion first appeared on the right hand but spread toward the elbow within 1 year. The histological findings were consistent with a diagnosis of lichen sclerosus. We therefore diagnosed extragenital linear lichen sclerosus and achieved a good response with methotrexate.

Happle-Tinschert Syndrome: A Case Report of Unilateral Segmentally Arranged Basaloid Follicular Hamartoma with Scoliosis and Review of Literature

Happle-Tinschert syndrome is a rare disease characterized by unilateral, segmentally arranged basaloid follicular hamartoma (BFH) with osseous, dental, and cerebral anomalies. Although BFH has been demonstrated to be associated with mutations in the patched gene, the genetic basis for Happle-Tinschert syndrome is still unknown. We describe a case of Happle-Tinschert syndrome in a 26-year-old female. The patient presented with unilateral skin color change to brownish papules and atrophoderma following the development of Blaschko's lines, plantar pitting, and nail dystrophy on the right side of the body. She also had scoliosis, hemihypotrophy, and dental anomalies. The skin lesions were histologically confirmed as BFHs. Next-generation sequencing of the patient's genomic DNA obtained from a peripheral blood sample identified no pathogenic mutation. This case illustrates the characteristic clinical features of Happle-Tinschert syndrome. Thus far, 14 cases of Happle-Tinschert syndrome have been reported, and we report another case of this syndrome.

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.

An Early Description of a "Human Mosaic" Involving the Skin: A Story from 1945.

In 1945, the Journal of Heredity published an impressive article entitled “A human mosaic: bilaterally asymmetrical noevus pigmentosus pilosus et mollusciformis unilateralis.” The author was M. Zlotnikoff, a Russian physician working in Ivanovo, a city located approximately 250 km northeast of Moscow. Zlotnikoff described a 24-year-old woman with a congenital linear epidermal naevus in a systematized and strictly unilateral arrangement. For the first time, the author explained this disorder as a mosaic resulting from a somatic mutation that occurred at an early stage of embryonic development. However, because this article was published immediately after the war, it fell into oblivion, despite the fact that it was of utmost importance in clinical dermatology. Zlotnikoff’s work is all the more remarkable as the author had never heard of the lines of Blaschko.

Linear lesions on the arm of a child: a diagnostic challenge

There are a number of conditions that follow the lines of Blaschko. Linear discoid lupus erythematosus is a rare variant of chronic lupus erythematosus with less than 20 cases reported in children. It can be misdiagnosed as lichen striatus or linear morphea. We describe a 15-year-old boy with a confirmed histologic diagnosis of linear chronic discoid lupus erythematosus following the lines of Blaschko, with no signs of systemic involvement.

Lichen planus pigmentosus, linear nevoid pattern along the lines of blaschko with mucosal involvement

Pigmented lichen planus is a rare variant of lichen planus that is characterized by oval and round shape dark brown macules with indistinct border. Linear pigmented lichen planus is a clinical pattern of planus disease that presents unilaterally along one or more lines of blaschko. We report a 30–year-old female patient with Linear pigmented lichen planus along the lines of blaschko with mucosal involvement. Keywords: Pigmented lichen planus; Blaschko line; Mucosal involvement.

Isolated Linear Discoid Lupus Erythematosus of Scalp Following Lines of Blaschko

Discoid lupus erythematosus (DLE) is an inflammatory autoimmune disease leading to scarring and hair loss. Linear Discoid lupus erythematosus has been mentioned in the literature as a rare variant. This article describes isolated linear DLE of the scalp. We present a 26-year-old Saudi male who had unilateral linear DLE of the scalp with no involvement of other body sites and no systemic manifestations. This case is the first case of isolated linear DLE on the scalp. This presentation should be considered as a differential diagnosis of linear scarring alopecia as a distinct morphological pattern of DLE.

Adult-onset linear discoid lupus erythematosus on the forehead mimicking en coup de sabre: a case report

BackgroundLinear cutaneous lupus erythematosus (LE) is an unusual form of LE-specific cutaneous condition, occurring in children and young adults. Due to its rarity, the diagnosis of linear cutaneous LE can be difficult and facial lesions can resemble linear morphea or en coup de sabre. Differential diagnosis of similar conditions along the lines of Blaschko must be differentiated from linear LE.Case presentationWe report a case of linear discoid LE on the forehead of an adult female Thai patient mimicking en coup de sabre. The dermatoscopy, histopathology and direct immunofluorescence findings were consistent with chronic cutaneous LE.ConclusionsAs this patient demonstrated classic dermatoscopic features of LE, we emphasized that the diagnosis of linear cutaneous LE can be made by dermatoscopy. This is particularly beneficial for young self-conscious patients with facial lesions that are reluctant to perform skin biopsy.

Novel USP9X variants in two patients with X-linked intellectual disability

USP9X variants have been reported in patients with X-linked intellectual disability. Here, we report two female patients with intellectual disability and pigment abnormalities along Blaschko lines. Targeted resequencing identified two novel heterozygous variants, c.4068_4072del (p. (Leu1357Tyrfs*12)) and c.1201C>T (p. (Arg401*)), in USP9X. Our findings provide further evidence that USP9X variants cause intellectual disability.

Patterned cutaneous hypopigmentation phenotype characterization: A retrospective study in 106 children.

Cutaneous patterned hypopigmentation's phenotype is highly variable and may be associated with extracutaneous anomalies. We evaluated the phenotypic and clinical characteristics of patients with cutaneous patterned hypopigmentation to determine whether certain patterns were more likely to be associated with underlying anomalies. The charts of 106 children with cutaneous patterned hypopigmentation were reviewed retrospectively (2007-2018) at Sainte-Justine University Hospital Centre, in Montreal, Canada. Retrieved information included sex, age at diagnosis, phototype, pattern, and distribution of the cutaneous lesions and the presence of extracutaneous findings. Data were recorded on a software tool which collects and analyzes phenotypic information. The predominant types of cutaneous patterned hypopigmentation were along Blaschko's lines in narrow (38.7%) and broad bands (53.8%). Mixed patterns were observed in 22.5% of children. The anterior trunk and posterior trunk were most frequently affected (69% and 56%, respectively). Extracutaneous involvement, especially neurological and developmental, was present in 28.3% of patients and was significantly associated with ≥4 involved body sites. Distribution and types of cutaneous patterned hypopigmentation were not predictive of extracutaneous findings, with the exception of multiple sites involvement and possibly centrofacial location and blocklike lesions. Follow-up until school entry should help identify subtler associated extracutaneous anomalies.

Nail lichen striatus: Is dermoscopy useful for the diagnosis?

Lichen striatus is a unilateral inflammatory dermatosis that rarely affects the nail unit. When the inflammation involves the nail unit, classic lichenoid nail changes are easily detectable, more often limited to only one portion of the nail. Usually the nail dystrophy coexists with periungual skin papules following Blaschko's lines, but it could also be an isolated feature. Because a nail unit biopsy presents difficulties in execution, especially in a child, the aim of our study has been to describe the nail unit dermoscopy features of lichen striatus hoping to provide a valid aid to clinicians in the diagnosing this rare disorder. We reviewed the images of five pediatric patients with a clinical diagnosis of lichen striatus. Data about sex, age, localization, predisposing/triggering factors, and associated disorders are reported. The diagnosis of lichen striatus can be challenging as there are clinically overlapping features with related dermatoses. A common diagnostic pitfall occurs with inflammatory linear verrucous epidermal nevus and lichen planus. Involvement of only one part of the nail plate with linear longitudinal fissuring, ridging, and distal splitting, especially if seen with perionychial skin lesions, is characteristic of lichen striatus. Nail lichen striatus is rare, and there is sparse published literature on it. When the changes in lichen striatus are limited to the nail, the diagnosis may easily be missed. We therefore believe that dermoscopy is an important diagnostic maneuver, which should be integrated into the evaluation of patients with potential lichen striatus, and in particular is helpful for clinicians unwilling or unable to perform a nail unit biopsy.

Hipomelanosis de Ito: reporte de caso

La hipomelanosis de Ito es un raro síndrome multisistémico, considerado el tercer trastorno neurocutáneo más frecuente; su incidencia es de 1 por cada 7.540 na­cidos vivos en todo el mundo.
 Se describe el caso de un adolescente de 12 años con un episodio convulsivo único, asociado a máculas hipocrómicas lineales bilaterales presentes desde el nacimiento, que seguían la distribución de las líneas de Blaschko, localizadas en el tronco y las extremidades.
 El diagnóstico de hipomelanosis de Ito se hizo con base en los hallazgos clínicos y en los estudios complementarios.

Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis

Linear porokeratosis features linear and whorled configurations of keratotic papules and plaques, with coronoid lamellae present on histologic examination. Because linear porokeratosis manifests in the lines of Blaschko representing the dorsoventral migration patterns of keratinocyte precursors, it has been suggested that postzygotic somatic mutation underlies the disease. However, no genetic evidence has supported this hypothesis to date. To identify genetic mutations associated with linear porokeratosis. Paired whole-exome sequencing of affected skin and blood/saliva samples from 3 participants from 3 academic medical centers with clinical and histologic diagnoses of linear porokeratosis. Whole-exome sequencing of paired blood/saliva and affected tissue samples isolated from linear porokeratosis lesions. Germline and somatic genomic characteristics of participants with linear porokeratosis. Of the 3 participants, 2 were male. Participant ages ranged from 5 to 20 years old. We found a combination of a novel germline mutation and a novel somatic mutation within affected tissue in all cases. One participant had a germline heterozygous PMVK c.329G>A mutation and a somatic copy-neutral loss of heterozygosity confined to the lesional skin, while a second had a germline heterozygous PMVK c.79G>T mutation and an additional PMVK c.379C>T mutation in the lesional skin. In a third participant, there was a germline splice-site mutation in MVD (c.70 + 5G>A) and a somatic deletion in MVD causing frameshift and premature codon termination within the lesional skin (c.811_815del, p.F271Afs*33 frameshift). Our findings suggest that linear porokeratosis is associated with the presence of second-hit postzygotic mutations in the genes that encode enzymes within the mevalonate biosynthesis pathway, and provide further evidence that the mevalonate pathway may be a potential target for therapeutic intervention in porokeratosis.

Incontinencia Pigmenti. Presentación de un Caso

La incontinentia pigmenti es una genodermatosis que afecta la pigmentación de la piel y suele estar asociada con una gran variedad de alteraciones en ojos, uñas, pelo, dientes, esqueleto, corazón y sistema nervioso central. La mayoría de los casos de incontinencia pigmenti se producen en forma esporádica como resultado de una mutación de novo consistente en la deleción de gran parte del gen NEMO (Nuclear Factor Kappa B Essential Modifier).
 Se presenta una paciente de 6 años de edad con lesiones hiperpigmentadas siguiendo las líneas de Blaschko. No tiene antecedentes durante el periodo perinatal, nació vía vaginal sin complicaciones, con un desarrollo cognitivo normal para su edad, sin afectación neurológica, lo cual llama la atención pues aunque esta enfermedad afecta principalmente a la piel, hay que considerar otros trastornos asociados, incluyendo defectos dentales, episodios convulsivos, retraso mental, anomalías oculares y neoplasias infantiles.
 Palabras claveIncontinencia pigmenti, informes de casos

Phacomatosis pigmentokeratotica: Two cases series of a neurocutaneous rarity from Indonesia

Phacomatosis pigmentokeratotica (PPK) is a distinct epidermal naevus syndrome. The syndrome is characterized by the coexistence of an organoid naevus with sebaceous differentiation arranged along Blaschko's lines, a papular naevus spilus arranged in a checkerboard pattern, in association with other extracutaneous anomalies. We report on two cases of PPK. The first case was an 11-year-old girl with sebaceous naevus on the right side of the body following the lines of Blaschko present since birth, whereas a papular naevus spilus involving the dorsal area of the neck was noted at 8 years of age. The second case was a 15-year old girl presented with sebaceous naevus on her face and neck and papular naevus spilus involving left side of her chest. Electroencephalography (EEG) of both cases revealed abnormal irritative epileptiform waves, and brain mapping showed symmetrical structures and no focus. The diagnoses of our two cases were based on clinical pictures of the coexistence of sebaceous naevus arranged along Blaschko's lines, a papular naevus spilus arranged in a checkerboard pattern, and EEG anomalies. To our knowledge, these cases were first reported in Indonesia. The association with various extracutaneous manifestation is often, as well as the possibility of malignant transformation.Hence a close follow-up of PPK patients is important, which may help in early recognition of the development of extracutaneous anomalies and the possibility of malignant transformation.

Hyperpigmented patches following blaschko lines: Two probable cases of linear atrophoderma of moulin with subtle atrophy and a critical review of the subject

Linear atrophoderma of Moulin (LAM) is a rare clinical entity characterized by hyperpigmented, depressed band-like skin lesions following blaschko lines (BL). Since its first description by Moulin et al., several authors have presented cases with variable clinical and histopathological features and have diagnosed them as LAM. Whether all those cases represented classical LAM as described by Moulin et al. or they represented a related dermatosis; depends on whether we confine the diagnosis of LAM as presented by Moulin et al. or consider it to be a spectrum where lesions may have overlapping clinical and histopathological findings. Some dermatoses that follow BL and have overlapping clinical and histopathological findings include LAM, idiopathic atrophoderma of Pasini and Pierini and Blaschkolinear morphea. Thus, it becomes difficult for a physician to diagnose these conditions when their typical clinical and histopathological findings are not present, especially when they present in early stages of evolution. Here in, we present two cases of LAM where the visible clinical atrophy is mild in one and not appreciable in the other. Whether our cases are the genuine cases of LAM or represent a stage of LAM or fall in the spectrum of LAM depends on how we expand the definition of LAM. We believe that whenever there is an encounter with hyperpigmented lesions in a blaschkoid pattern, a long-term follow-up is needed with serial biopsies to make a final definitive diagnosis.

Generalized unilateral porokeratotic eccrine ostial and dermal duct nevus along the lines of blaschko: A rare entit

Generalized unilateral porokeratotic eccrine ostial and dermal duct nevus along the lines of blaschko: A rare entit

Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome

Nevus sebaceous is the most common type of organoid epidermal nevus, often located on the face, following the Blaschko's lines and with alterations in the ipsilateral central nervous system. Distinct disorders can be distinguished by the type of association with epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes and bones. We report the case of an 8-year-old female patient with a yellowish verrucous plaque on the left temporal area extending ipsilaterally to the cervical region, combined with cicatricial alopecia, periocular nodule, and epibulbar tumors.

Clinicopathological Study of Primary Cutaneous Amyloidosis in a Tertiary Care Center of Eastern India Reveals Insignificant Association with Friction, Scrubbing, and Photo-Exposure: How valid is the "Keratinocyte Hypothesis"?

Introduction:Primary cutaneous amyloidosis (PCA) can be classified into four principal categories: macular amyloidosis, lichen amyloidosis, biphasic, and nodular amyloidosis. Some unusual variants such as widespread diffuse hyperpigmentation without papules, poikiloderma like involvement, lesions following Blaschko's line, etc., have also been reported. However, not much data are available regarding the demography, epidemiology, clinical patterns, and distribution and histopathological findings, especially from the eastern part of India.Aims:We conducted a cross-sectional, institution-based study to evaluate clinicopathological pattern and factors of PCA in eastern India.Materials and Methods:We recorded clinical and histopathological findings of 100 consecutive patients of PCA presenting to a tertiary care institution of Kolkata in eastern India.Results:We found female patients of PCA outnumber male (M:F =1:1.9) with majority of patients being young adults (56%) between 20 and 40 years of age. More than half (54%) of the patients were pruritic. The severity of pruritus is significantly more associated with lichenoid and biphasic variants over macular amyloidosis. Positive family history was recorded in 17% of cases. Macular variant was the most common variant constituting 48% of the total PCA. We also found that the association with history of friction and scrubbing and photo-exposure were statistically insignificant. However, duration of the disease has statistically significant association with the disease morphology. Congo red stain showed these deposits as reddish orange substance in 28 patients out of 64 patients’ samples on which Congo red could be performed.Conclusion:Our study revealed that many concepts of pathogenesis of PCA including friction and photoexposure might have lesser importance. However, morphological types were significantly associated with the duration of the disease and symptom severity.