Results 41 to 50 of about 27,969 (160)
Huriez syndrome caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1
, 2021 British Journal of Dermatology, Volume 184, Issue 6, Page 1205-1207, June 2021.
A.Y.T. Loh +8 more
wiley +1 more source
Hereditary palmoplantar keratoderma: A practical approach to the diagnosis
Indian Dermatology Online Journal, 2019 The ridged skin of the palms and soles has several unique features: (i) presence of dermatoglyphics created by alternating ridges and grooves forming a unique pattern, (ii) presence of the highest density of eccrine sweat glands and absence of ...
Tanvi Dev +2 more
doaj +1 more source
Pachyonychia congenita: A rare genodermatosis
Indian Dermatology Online Journal, 2013 Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female
Puneet Agarwal +6 more
doaj +1 more source
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22–q24 [PDF]
Journal of Medical Genetics, 2003 Background: The identification of the molecular basis of disorders of keratinisation has significantly advanced our understanding of skin biology, revealing new information on key structures in the skin, such as the intermediate filaments, desmosomes, and gap junctions. Among these disorders, there is an extraordinarily heterogeneous
Martinez-Mir, A. +13 more
openaire +3 more sources
Hereditary punctate palmoplantar keratoderma--a clinical study.
Indian journal of dermatology, venereology and leprology, 2007 28 patients of hereditary punctate palmoplantar keratoderma (HPPK) were selected from DermatoVenereology out patients of Rajindra Hospital, Patiala. Cases were divided into group A with PPK as major feature and group 6 with PPK as minor feature. 11/28 belonged to group A and 17/28 to group B.
R R, Mittal, A, Jha
openaire +2 more sources
A Unique Type of Hereditary Punctate Palmoplantar Keratodermas
Dermatology and Dermatitis, 2017 Keratodermas encompass a wide spectrum of disorders of keratinization that may be acquired or hereditary. We present two cases of focal acral hyperkeratosis (FAH), a subtype of punctate palmoplantar keratoderma. We review the literature and attempt to clarify the confusing classification of the heritable punctate palmoplantar keratodermas.
Cesar Ricardo, Brady Mark, Diego Luis
openaire +1 more source
Huriez syndrome: a rare palmoplantar keratoderma [PDF]
, 2017 The Huriez syndrome is a rare autosomal dominant transgradient palmoplantar keratoderma which is characterized by scleroatrophy of the fingers, nail changes and squamous cell carcinomas in affected skin.
Verma, Ghanshyam Kumar +2 more
core +1 more source
A Rare Case on Capecitabine Induced Acquired Palmoplantar Keratoderma
, 2023 Laila Tsaqilah,1 Keshia Amalia Mivina Mudia,1 Hermin Aminah Usman,2 Hartati Purbo Dharmadji,1 Risa Miliawati Nurul Hidayah,1 Erda Avriyanti1 1Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran–Dr.
Tsaqilah L +5 more
core
Punctate porokeratotic keratoderma--its occurrence with internal neoplasia
, 1994 Punctate porokeratotic keratoderma (PPK) represents a diffuse involvement of palms and soles by multiple, accuminate keratotic papules and plugs, histologically identified by parakeratotic cornoid lamellae. A possible association between PPK and internal
Iraci, S +4 more
core +2 more sources
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source