Results 71 to 80 of about 3,504 (191)

H syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skin

, 2019
H syndrome is an autosomal recessive genodermatosis caused by SLC29A3 gene mutation. An important feature of the H syndrome is the hyperpigmented patchs and plaques, usually accompanied by hypertrichosis, seen in the inner thigh.
Ecer, N., Ozturk, M., Ruhi, H., I, Sula, B., Ertop, P., Durmaz, C. D., An, I   +6 more
core  

Hypermobility in patients with epidermolysis bullosa—A retrospective observational study from a national referral center

JEADV Clinical Practice
Background Epidermolysis bullosa (EB) is an inherited genodermatosis of variable severity characterised by skin and mucosal fragility commonly associated with altered gait patterns and hypermobility.
Maria L. Bageta, Michelle Wood, Pablo Lopez Balboa, Gabriela Petrof, Anna E. Martinez   +4 more
doaj   +1 more source

Perceptions of a Group of Experts on the Integration of Artificial Intelligence in the Management of Atopic Dermatitis

JEADV Clinical Practice, Volume 5, Issue 1, Page 278-280, March 2026.
Jean‐Francois Stalder, Valeria Aoki, Helène Aubert, Sebastien Barbarot, Chia‐Yu Chu, Mette Deleuran, Lawrence Eichenfield, May El Hachem, Laurent Elgard, Raquel Leão Orfali, Ana Mosca, Olivia Negris, Marketa Saint Aroman, Pranvera Sulejmani, Alain Taieb, Antonio Torrelo, David Troya, Magdalena Trzeciak, Christian Vestergaard, Andreas Wollenberg, Peter Lio   +20 more
wiley   +1 more source

Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families

Frontiers in Medicine
ObjectiveEpidermolysis bullosa simplex (EBS) is a common, well-characterized type of epidermolysis bullosa. However, some rare syndromic EBS phenotypes are not well described.
Yulia Y. Kotalevskaya, Yulia Y. Kotalevskaya, Vadim A. Stepanov   +2 more
doaj   +1 more source

Frecuencia de genodermatosis en los centros geriátricos de Cuenca, Azuay 2001

, 2001
El presente trabajo se basa en un estudio clínico descriptivo, para determinar la frecuencia de genodermatosis en 150 personas de la tercera edad, asiladas en los centros geriátrico existentes en la ciudad de Cuenca: Cristo Rey y Miguel León; a los que ...
Espinoza Cárdenas, Eliecer Patricio, Dávila Jara, Germán Enrique, Cevallos Sarmiento, Teodoro Edison   +2 more
core  

A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis

The Turkish Journal of Pediatrics, 2018
Epidermolytic hyperkeratosis (EHK) is a rare genodermatosis whose prevalence is less than 1 in 100,000. Mutations in either the keratin 1 or keratin 10 genes lead to EHK characterized by congenital erythema and epidermal blisters at birth, followed by ...
Chenyu Zhao, Yonggui Li, Gaoxing Shi, Xiaoliu Shi, Guiying Zhang   +4 more
doaj   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Xanthomatous nevus: A potential new entity

JAAD Case Reports, 2021
Marialuisa Corbeddu, MD, May El Hachem, MD, Alessandra Stracuzzi, MD, Claudia Carnevale, MD, Rita Alaggio, MD, Andrea Diociaiuti, MD   +5 more
doaj   +1 more source

Mal de Meleda: A Report of Two Cases In One Family [PDF]

Medicinski Glasnik, 2006
Mal de Meleda is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma, lichenoid skin lesions, perioral erythema, brachydactyly and nail abnormalities.
M.Kantor, E. Kasumagić-Halilović, A. Prohić   +2 more
doaj  

Incontinentia Pigmenti: A Rare Genodermatosis in a Male Child

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2015
Incontinentia pigmenti is rare X-linked dominant disorder. There is no consistent expression of Incontinetia pigmenti in female child, but in male child, they always lead to death in utero. Vesicular, verrucous, hyperpigmented, and atrophic stages are the four stages of Incontinetia Pigmenti and it is uncommon for all stages to be seen in a same case ...
Dinesh Kumar Narayana Swamy, Arulkumaran Arunagirinathan, Revathi Krishnakumar, Sivaraman Sangili   +3 more
openaire   +3 more sources