Results 51 to 60 of about 3,958 (176)

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Clouston Syndrome with Palmoplantar Keratoderma

Journal of Indian Academy of Oral Medicine and Radiology, 2011
Clouston syndrome (hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia and palmoplantar hyperkeratosis. Clouston syndrome is transmitted as an autosomal dominant trait and caused by mutations in the GJB6 gene (13g12), encoding the gap junction protein connexin 30 (C x 30).
M P Singh, Manishi Singh, Manika Singh, Prashant Tripathi   +3 more
openaire   +2 more sources

Delayed Diagnosis of Sézary Syndrome: Lessons From a Psoriasiform Presentation

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Pruritic erythroderma is not always psoriasis. Resistant cases require a broad evaluation for cutaneous lymphoma. Early, timely diagnosis prevents disease progression, improves outcomes, and enhances quality of life, highlighting the need for re‐evaluation when conventional treatments fail.
Sudhan Neupane, Anu Neupane, Sajjad Ahmed Khan, Huma Kausar   +3 more
wiley   +1 more source

Beyond the Common Causes of Palmoplantar Keratoderma: Papillon–Lefevre Syndrome with a Unique Mutation

Clinical Dermatology Review
Papillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. It is also known as keratoderma with periodontitis.
Sanjanaa Srinivasa, Sumedha Ballal, Preetha Tilak, Savitha Murali, Madhukara Jithendriya   +4 more
doaj   +1 more source

Você conhece esta síndrome? Do you know this Syndrome?

Anais Brasileiros de Dermatologia, 2008
A síndrome de Papillon-Lefèvre ou queratodermia transgressiva com periodontopatia é genodermatose rara, com acometimento cutâneo e dentário. As alterações aparecem por volta do primeiro ano de vida, com queratodermia transgressiva palmoplantar associada ...
Flávia Regina Coeli, Danielle Mazziero Macedo, Mariana Dias Batista, Silmara da Costa Pereira Cestari, Osmar Rotta   +4 more
doaj   +1 more source

Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang, Qing Zhao, Hong Liu, Furen Zhang, Zhiqiang Song   +4 more
wiley   +1 more source

Dysphagia in a patient with palmoplantar keratoderma [PDF]

Postgraduate Medical Journal, 2001
Abstract A 72 year old man was referred by his general practitioner with a four month history of dysphagia. Physical examination wasunremarkable with the exception of his hands and feet which showed hyperkeratosis on the palms (fig 1) and soles of his feet.
openaire   +2 more sources

Efficacy of Apremilast in Refractory Genital Psoriasis: A Retrospective Case Series

JEADV Clinical Practice, Volume 4, Issue 5, Page 1150-1156, December 2025.
ABSTRACT Background Genital pustular psoriasis is a rare and often underdiagnosed condition that can severely affect physical comfort, quality of life and psychological well‐being. It can be particularly challenging to manage, often requiring systemic therapies due to its potential unresponsiveness to conventional topical treatment.
Jonathan Krygier, Ursula Sass, Bertrand Richert   +2 more
wiley   +1 more source

Olmsted Syndrome

Indian Journal of Dermatology, 2002
Olmsted syndrome is a rare congential palmoplantar keratoderma with progressive periorificial hyperkeratotic lesions, alopecia areata, deafness, lental and nail changes. Only a few cases of this syndrome have been reported so far.
Mukhopadhyay Piyali, Biswas Nibir, Dutta R.N, Pal S   +3 more
doaj  

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source