Results 191 to 200 of about 50,269 (341)

A CASE OF HYPERKERATOSIS PALMARIS ET PLANTARIS ASSOCIATED WITH AINHUM‐LIKE CONSTRICTION OF THE FINGERS

Proceedings of the Royal Society of Medicine, 1929
J. Wigley
semanticscholar   +1 more source

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients

Pediatric Dermatology, EarlyView.
ABSTRACT Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss‐of‐function pathogenic variants in the CAST gene, encoding calpastatin.
Fiona Haxho, Richard M. Haber, Janan Mohamad, Ofer Sarig, Eli Sprecher, Renée Perrier, Dana Boctor, Michele Ramien   +7 more
wiley   +1 more source

Pigmented Birthmarks and Spinal Neurofibromas in KRAS Mosaicism—Not to Be Confused With NF1

Pediatric Dermatology, EarlyView.
ABSTRACT We report a child presenting with pigmentary skin lesions and spinal neurofibromas who was diagnosed molecularly with KRAS mosaicism. We review the previous literature of two cases of congenital skin lesions and neurofibromas and spinal nerve root hypertrophy caused by KRAS variants and highlight this presentation as an important differential ...
Karina M. Forde, Nicole Knöpfel, Ulrike Loebel, Veronica A. Kinsler   +3 more
wiley   +1 more source

Nevoid Hyperkeratosis of the Nipple and Areola: A Case Report. [PDF]

Cureus
Morales-Olvera D, Mota Díaz NA, Vega-Memije E, Cárdenas Hernández ML, Ramirez Teran AL.   +4 more
europepmc   +1 more source

Recurrent cutaneous infections, hyperkeratosis, ichthyosis and deafness and a newly identified connexin 26 gene mutation A40V

, 2002
Jay R Montgomery, Bryan Martin, Isabelle Olivos‐Glander, Marie Turner, Dirk Darnell, Steven M. Holland   +5 more
openalex   +1 more source

Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis–Ichthyosis–Deafness (KID) Syndrome With Topical Mefenamic Acid

Pediatric Dermatology, EarlyView.
ABSTRACT Keratitis–ichthyosis–deafness (KID) syndrome is a rare genetic condition typically presenting at birth with ichthyosiform erythroderma and bilateral hearing loss and later progressing to diffuse keratodermatous plaques with scaling. The condition is associated with mutations in the GJB2 gene, which lead to aberrant activation of connexin ...
Radhika Gupta, Alisa Ho, Lars Brichta, Albert C. Yan   +3 more
wiley   +1 more source

A rare clinical presentation of plantar keratoderma. [PDF]

Pan Afr Med J
Itankar PB, Sawarkar GR.
europepmc   +1 more source

Use of arsenic-induced palmoplantar hyperkeratosis and skin cancers to predict risk of subsequent internal malignancy.

American Journal of Epidemiology, 2013
L. Hsu, Gwo-Shing Chen, Chih-Hung Lee, Tse-Yen Yang, Yu-Hsin Chen, Yuan-Hung Wang, Y. Hsueh, H. Chiou, Meei-Maan Wu, Chien-Jen Chen   +9 more
semanticscholar   +1 more source

Erythrokeratodermia‐Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions

Pediatric Dermatology, EarlyView.
ABSTRACT Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP).
Sepideh Hamzehlou, Ryland D. Mortlock, Caroline Echeandia‐Francis, Jing Zhou, Chao Xing, Nnenna G. Agim, Keith A. Choate, Donald A. Glass II   +7 more
wiley   +1 more source

Scaling red-brown hyperkeratotic papules and plaques involving the axilla. [PDF]

JAAD Case Rep
Elias MC, Tam CC.
europepmc   +1 more source