Results 61 to 70 of about 6,541 (219)
Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14 [PDF]
, 2018 Pityriasis rubra pilaris (PRP) represents a group of rare chronic inflammatory skin disorders in which ~1 in 20 affected individuals show autosomal dominant inheritance.
Hsu, C-K +3 more
core +1 more source
Bullous Congenitalichthyosiform Erythroderma - PS 1 Type
Indian Journal of Dermatology, 2003 We describe a case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) with severe transgradient type of palmoplantar keratoderma. It occurred in a thirty year old man, who was born out of first degree consanguineous marriage.
Dave Shriya +2 more
doaj
Indian Dermatology Online Journal, 2017 We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome.
Gunjan Verma, Kabir Sardana, R K Gautam
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen +10 more
wiley +1 more source
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
Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report
Case Reports in Dermatology, 2017 Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of 1.17/100,000. PPPK usually presents with bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface.
Chanisa Kiatsurayanon +5 more
doaj +1 more source
p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response. [PDF]
, 2018 Hyperproliferative keratinocytes induced by trauma, hyperkeratosis and/or inflammation display molecular signatures similar to those of palmoplantar epidermis.
Arcidiacono, P +9 more
core +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 +3 more
wiley +1 more source
Palmoplantar keratoderma climactericum successfully treated with topical oestrogen
JEADV Clinical PracticeKeratoderma climactericum is characterized by palmoplantar hyperkeratosis developing after the onset of menopause. Although rare, keratoderma climactericum can profoundly impact quality of life and may be refractory to prescription‐strength topical ...
T. E. Norman +3 more
doaj +1 more source
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]
, 2016 Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Betz, Regina C. +12 more
core +3 more sources