Epidermolysis Bullosa Simplex With Mottled Pigmentation

Last update 01 Nov 2024

Basic Info

Synonyms

EBS with mottled pigmentation, EBS-MP, EBS2F

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Introduction

A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk.

100 Clinical Results associated with Epidermolysis Bullosa Simplex With Mottled Pigmentation

100 Translational Medicine associated with Epidermolysis Bullosa Simplex With Mottled Pigmentation

0 Patents (Medical) associated with Epidermolysis Bullosa Simplex With Mottled Pigmentation

Literatures (Medical) associated with Epidermolysis Bullosa Simplex With Mottled Pigmentation

01 Jun 2021·JAAD Case Reports

Epidermolysis bullosa simplex clearance after nasopharyngeal carcinoma treatment

Author: Alkeraye, Salim ; Aljomah, Nouf Abdulaziz ; Alabduljabbar, Abeer Adeeb ; AlKhawajah, Nour Marwan ; AlKhawajah, Marwan Mohammed

Epidermolysis bullosa (EB) refers to a group of genetic diseases characterized by blistering in response to minor trauma. It is divided into 3 major categories based on the depth of skin blistering, as follows: 1) EB simplex (EBS), 2) junctional EB, and 3) dystrophic EB. A fourth major type was recently proposed and encompasses Kindler syndrome, since this genodermatosis shares with the other 3 major EB types the presence of mechanically fragile skin and blisters, yet, in contrast to all other EB types, typically have cleavage planes within multiple levels of the basement membrane zone.1,2 The most recently updated classification of EB was published by Mellerio et al.3 EBS is most often caused by mutations within the genes encoding for keratin 5 and keratin 14, with the vast majority being autosomal dominantly transmitted.2 There are currently no approved therapies for any form of inherited EB. Treatments have focused on symptom relief, and the increasing understanding of the pathogenesis of EB is facilitating the development of novel evidence-based therapy approaches. Recent knowledge on disease-secondary mechanisms has led to the development and clinical testing of urgently needed symptom-relief therapies using small molecules and biologicals. For now, day-to-day management of EB focuses on the prevention of mechanical trauma, wound care, avoidance of infection, padding over bony prominences, protective bandaging, and loose-fitting clothes1 Herein, we present the case of a 49-year-old woman with known EBS-mottled pigmentation since birth who cleared after treatment of nasopharyngeal carcinoma.

01 Mar 2016·British Journal of Dermatology

Epidermolysis bullosa simplex with mottled pigmentation with noncicatricial alopecia: identification of a recurrent p.P25L mutation inKRT5in four affected family members

Letter

Author: Kawano, S. ; Oiso, N. ; Sakai, K. ; Nagai, H. ; Nakamachi, Y. ; Nishio, K. ; Kawada, A. ; Fujiwara, S. ; Tomida, S. ; Nishigori, C.

Abstract Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare subtype of EBS that is characterized by blistering, mottled pigmentation of the trunk and limbs, punctate hyperkeratosis of the palms and soles, and dystrophic nails.(1) EBS-MP is caused by a mutation in the KRT5 or KRT14 gene encoding keratin 5 (K5) and keratin 14 (K14), respectively.(1, 2) Dermatopathia pigmentosa reticularis (DPR), caused by a KRT14 mutation, is characterized by reticulate pigmentation, noncicatricial alopecia, onychodystrophia and loss of dermatoglyphics.(3) Here, we report cases of EBS-MP with noncicatricial alopecia, a clinical feature of DPR, with a recurrent p.P25L mutation in KRT5 in four Japanese family members. This article is protected by copyright. All rights reserved.

01 Nov 2013·Pediatric DermatologyQ4 · MEDICINE

Epidermolysis Bullosa Simplex with Mottled Pigmentation: A Family Report and Review

Q4 · MEDICINE

Review

Author: Asunción Vicente ; Ana Terrón ; Jose M. Mascaró ; Maria A. González-Enseñat ; Begoña Echeverría-García ; Marcela del Río ; María J. Escámez ; Antonio Torrelo ; Isabel Colmenero ; Ángela Hernández

Abstract: Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS‐MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members. We present six cases from two unrelated Spanish families each with several affected members with EBS‐MP and review the clinical and genetic findings in all reported patients. We highlight the changing clinical features of the disease throughout life.

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Epidermolysis Bullosa Simplex With Mottled Pigmentation

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