Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing

Liu, Jiawei; Asan,; Sun, Jun; Vañó‐Galván, Sergio; Liu, Fengxia; Wei, Xiuxiu; Ma, Dong‐Lai

doi:10.4103/0366-6999.172564

Cited by 7 publications

(3 citation statements)

References 21 publications

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“…1 The achromic lesions lack melanosomes in Targeted gene sequencing is an effective tool for molecular diagnosis of highly heterogenous genodermatoses, such as DUH owing to its low cost and high accuracy. 29…”

Section: Investigationsmentioning

confidence: 99%

Dyschromatosis universalis hereditaria

Murthy,

Palaniappan,

Karthikeyan

et al. 2023

Int J Dermatology

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Reticulate pigmentary dyschromatoses primarily include dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH) (Reticulate acropigmentation of Dohi), and unilateral dermatomal pigmentary dermatosis, which differ in their patterns of distribution. The disease was initially described by Ichikawa and Hiraga in Germany in 1933. The prevalence of DUH is 0.3 per 100,000 with a female preponderance. The skin lesions usually appear in infancy or early childhood and cease to progress beyond adolescence. The subtypes DUH 1 and DUH 3 are found to have autosomal dominant inheritance, which is the most common inheritance pattern, while DUH 2 has an autosomal recessive pattern. The most common gene involved in DUH is ABCB6, while the other genes include SASH 1, PER 3, and KITLG (DUH type 2). DUH is characterized by multiple irregular hyperpigmented macules interspersed with hypopigmented macules in a mottled pattern over the trunk and extremities. The face is involved in 50% of individuals. Rarely, it can also involve hairs, nails, mucous membranes, palms, and soles. Other varied presentations include localized forms, localization of lesions to sun‐exposed areas, large macules, uniform palmar hypopigmentation, diffuse hyperpigmentation with spotty depigmented macules, and unilateral involvement. DUH has been reported to be associated with various cutaneous and systemic diseases. The authors have observed cases of DUH associated with hepatocellular carcinoma, solitary keratoacanthoma, and dermoid cyst. The various diagnostic modalities include dermoscopy, histopathology, electron microscopy, and targeted gene sequencing. Though various treatment modalities like NBUVB and lasers have been tried, no treatment is promising.

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Section: Investigationsmentioning

confidence: 99%

Dyschromatosis universalis hereditaria

Murthy,

Palaniappan,

Karthikeyan

et al. 2023

Int J Dermatology

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“…At the same time, another group found three heterozygous missense mutations of the ABCB6 gene in a Chinese family and sporadic patients with DUH3 [ 25 ]. It has been reported that there is a distinct clinical phenotype difference between SASH1 mutations and ABCB6 mutations in patients with DUH [ 31 , 32 ]. Very recently, genetic screening revealed that a heterozygous missense mutation; p.Q518P in the SASH1 gene [ 31 ], with the heterozygous SASH1 c.1547G > A mutation and SASH1 c.1547G > T mutation [ 33 ]; and a missense mutation, c.1529G > A in the SASH1 gene [ 29 ], were identified.…”

Section: Dyschromatosis Universalis Hereditariamentioning

confidence: 99%

Inherited Reticulate Pigmentary Disorders

Lin

Chou

Lee

et al. 2023

Genes

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Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD), dyskeratosis congenita (DKC), Naegeli–Franceschetti–Jadassohn syndrome (NFJS), dermatopathia pigmentosa reticularis (DPR), and X-linked reticulate pigmentary disorder. Although reticulate pattern of pigmentation is a common characteristic of this spectrum of disorders, the distribution of pigmentation varies among these disorders, and there may be clinical manifestations beyond pigmentation. DSH, DUH, and RAK are mostly reported in East Asian ethnicities. DDD is more common in Caucasians, although it is also reported in Asian countries. Other RPDs show no racial predilection. This article reviews the clinical, histological, and genetic variations of inherited RPDs.

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“…The disease usually starts at infancy or early childhood, stops spreading before adolescence and persists throughout life without significant changes. Diagnosis is based on clinical features [41].…”

Section: Dyschromatosis Universalis Hereditariamentioning

confidence: 99%

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Cantile

Coppola

Caponio

et al. 2021

JCM

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Genodermatoses represent a group of uncommon, hereditary, single-gene skin disorders, characterized by multisystem involvement, heterogeneous clinical manifestations and different degrees of morbidity and mortality. Some genodermatoses may have oral mucosa and nail involvement, since the oral cavity and cutaneous organ system, including nails, share a close embryologic origin. Nail disorders can manifest with nail hypoplasia or nail hypertrophy. Clinical pictures of affected oral mucosa can be extremely heterogeneous, ranging from asymptomatic papules to painful blisters, leukokeratosis, oral papillomas and fibromas to oral potentially malignant disorders and cancerous lesions. Oral mucosa and nails pathological features may occur synchronously or not and are usually associated with other systemic and skin manifestations. In some cases, oral mucosa and nails diseases may be distinct and constitute the principal sign of the genetic disorder, in other cases they represent only a part of the puzzle for the confirmation of the diagnosis. Continued awareness of the correlation between oral mucosa and nails findings can help physicians to diagnose genodermatosis in a timely manner, allowing more effective clinical management and prevention and/or early detection of complications. This article provides an overview of all specific genodermatoses affecting both oral mucosa and nails. Moreover, the correlation between teeth and nails is summarized in tabular form.

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Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing

Cited by 7 publications

References 21 publications

Dyschromatosis universalis hereditaria

Dyschromatosis universalis hereditaria

Inherited Reticulate Pigmentary Disorders

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

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