Results 31 to 40 of about 4,905 (212)

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source

A case of ichthyosis hystrix: Unusual manifestation of this rare disease

Indian Journal of Dermatology, 2014
Ichthyosis hystrix is a term used to describe an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales mainly over extensor aspects of limbs with palmoplantar keratoderma and occasionally associated with deafness and neurological
Projna Biswas, Abhishek De, Sampreeti Sendur, Falguni Nag, Archana Saha, Gobinda Chatterjee   +5 more
doaj   +1 more source

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin

Case Reports in Dermatology, 2015
Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma.
Fahad Almutawa, Thusanth Thusaringam, Kevin Watters, Tenzin Gayden, Nada Jabado, Denis Sasseville   +5 more
doaj   +1 more source

Punctate palmoplantar keratoderma: A case report and literature review

Clinical Dermatology Review, 2023
Punctured palmoplantar keratodermas are rare autosomal-dominant keratodermas presenting as asymptomatic, tiny hyperkeratotic pigmented papules on the palms and soles.
J P Prathibha, Vijay Venkataraj Aithal
doaj   +1 more source

Palmoplantar Keratoderma in Slurp2-Deficient Mice [PDF]

, 2016
SLURP1, a member of the lymphocyte antigen 6 protein family, is secreted by suprabasal keratinocytes. Mutations in SLURP1 cause a palmoplantar keratoderma (PPK) known as mal de Meleda.
Barnes, Richard H, Larsson, Mikael, Tu, Yiping, Tontonoz, Peter, Fong, Loren G, Hong, Cynthia, Allan, Christopher M, Young, Lorraine C, Procaccia, Shiri, Young, Stephen G, Allan, Bernard B, Beigneux, Anne P, Tran, Deanna   +12 more
core   +1 more source

Disruption of TUFT1, a Desmosome-Associated protein, causes skin fragility, woolly hair, and Palmoplantar Keratoderma [PDF]

, 2023
Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss-of-function variants in desmosomal genes leads to a variety of skin- and heart-related phenotypes. In this study, we report TUFT1 as a
Silljé, H., Bolling, M., Vermeer, M., van der Molen, M., Uitterlinden, A., Dean, M., Hublin, J. ; https://orcid.org/, Giepmans, B., Slotman, J., M.W., A., Saris, J., Diercks, G., Meijer, H., van den Ouweland, Oberdorf-Maass, S., Hoes, M., Nijenhuis, M., Verlouw, J., Andrei, D., Bremer, J., Hoogeboom, A., Verkerk, A., C., P., Arp, P., Schouten, M., Willemsen, R., van der Meer, P., Kramer, D., van den Akker, Pas, H., Stoop, H., Romero-Herrera, P.   +31 more
core   +2 more sources

Schopf–Schulz–Passarge syndrome

Indian Dermatology Online Journal, 2018
Schopf–Schulz–Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid ...
Kinjal D Rambhia, Vidya Kharkar, Sunanda Mahajan, Uday S Khopkar   +3 more
doaj   +1 more source

Eine neuartige MBTPS2‐Missense‐Variante identifiziert Keratosis follicularis spinulosa decalvans in einem Fall von neonataler Erythrodermie [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-397, March 2026.
Cuperus E, van Geel M, Verhoeven V, Koudijs S, Boerman G, Tjiam A, van der Lugt N, Pasmans S.   +7 more
europepmc   +2 more sources

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, Dharmadji HP, Hidayah RMN, Usman HA, Avriyanti E, Mudia KAM   +5 more
core  

Vohwinkel syndrome: ichthyosiform variant in a family [PDF]

Anais Brasileiros de Dermatologia, 2018
: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient ...
Clarissa Prieto Herman Reinehr, Juliano Peruzzo, Tania Cestari   +2 more
doaj   +1 more source