Results 11 to 20 of about 7,515 (243)

Buschke–Fischer–Brauer Keratoderma: A Case Report of a Rare Skin Disorder

Clinical Case Reports
Buschke–Fischer–Brauer keratoderma is a rare autosomal dominant disorder presenting as hyperkeratotic lesions on the palms and soles. Diagnosis requires clinical and histopathological evaluation. Management is symptomatic with keratolytics like salicylic
Dyala Sayed Ahmad, Rim Nasser, Moatasem Hussein Al‐janabi, Fouz Hassan   +3 more
doaj   +2 more sources

Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar Keratoderma. [PDF]

J Dermatol
ABSTRACT Hereditary palmoplantar keratoderma (PPK) involves hyperkeratosis of the palmoplantar skin and belongs to the palmoplantar epidermal differentiation disorders (pEDDs). One causal gene is Desmoglein 1 (DSG1), which encodes a protein crucial for epidermal integrity. Monoallelic DSG1 variants cause mild, non‐syndromic PPK, whereas bi‐allelic DSG1
Ahmed S, Cesarato N, Li Y, Xiong X, Ullah K, Khan H, Khan MJ, Thiele H, Ahmad W, Hasni MS, Betz RC.   +10 more
europepmc   +2 more sources

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma. [PDF]

JAMA Dermatol
Gram SB, Brusgaard K, Lei U, Sommerlund M, Vinding GR, Sleire SOK, Christensen AH, Fast SP, Bach R, Bygum A, Ousager LB.   +10 more
europepmc   +2 more sources

Nagashima-type palmoplantar keratoderma

Indian Journal of Dermatology, Venereology and Leprology
Tai-Li, Chen, Cheng-Yuan, Li
openaire   +3 more sources

Annular epidermolytic ichthyosis: a case report and literature review, [PDF]

Anais Brasileiros de Dermatologia, 2020
Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who
Emanuella Stella Mikilita, Irina Paipilla Hernandez, Ana Letícia Boff, Ana Elisa Kiszewski   +3 more
doaj   +2 more sources

Treatment of Painful Palmoplantar Keratoderma Related to Pachyonychia Congenita Using EGFR Inhibitors. [PDF]

Biomedicines, 2022
Greco C, Ponsen AC, Leclerc-Mercier S, Schlatter J, Cisternino S, Boucheix C, Bodemer C.   +6 more
europepmc   +3 more sources

Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations [PDF]

Anais Brasileiros de Dermatologia, 2017
Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity.
Moustafa Abdelaal Hegazi, Sommen Manou, Hazem Sakr, Guy Van Camp   +3 more
doaj   +2 more sources

Type 4 Woolly Hair-Palmoplantar Keratoderma Syndrome: A Rare Entity.

Indian J Dermatol, 2021
Hassanandani T, Agarwal A, Kar BR.
europepmc   +2 more sources

The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]

, 2014
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis.
Al-Asadi, E., Hansen, C. D., McLean, W. H. I., Milstone, L. M., O'Toole, E., Schwartz, M. E., Shepherd, A. A., Smith, F. J. D., Sprecher, E., Wilson, N. J.   +9 more
core   +3 more sources

Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease)

Case Reports in Dermatology, 2019
Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we report a 59-year-old male, otherwise healthy, who presented with a 25-year history of asymptomatic persistent slowly progressing skin lesions on both hands.
Rahaf Bukhari, Waseem Alhawsawi, Aisha Ahmad Radin, Hawazin D. Jan, Khalid Al Hawsawi, Marwan Al Ahmadi   +5 more
doaj   +1 more source