Results 51 to 60 of about 2,720 (173)

Incontinentia pigmenti: multisistemic genodermatosis.

Boletin medico del Hospital Infantil de Mexico, 2021
Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells ...
Adrián, Martínez-Gayosso, María T, García-Romero   +1 more
openaire   +1 more source

Bloch-Sulzberger syndrome: a rare genodermatosis

International Journal of Contemporary Pediatrics, 2023
A 6 month old female child was admitted with complaints of delayed developmental milestones and multiple hyperpigmented patches on the trunk, limbs, axilla and groin. At birth the baby had diffuse vesciculo-bullous rash. Currently the child has global developmental delay with seizures with investigations suggesting the same.
openaire   +1 more source

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

Bullae and Scales in a Newborn

JEADV Clinical Practice, Volume 5, Issue 2, Page 719-721, June 2026.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 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

Rapid and long‐lasting remission of refractory Hailey‐Hailey disease by IL‐13 inhibition with tralokinumab

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 6, Page 818-820, June 2026.
Oliver Brandt, Stephanie M. Huber, Simon M. Mueller   +2 more
wiley   +1 more source

Angiosarcoma of the scalp associated with Xeroderma pigmentosum

Indian Journal of Medical and Paediatric Oncology, 2012
Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis associated with hypersensitivity to ultraviolet light due to defects in Deoxyribonucleic acid (DNA) repair.
Shilpi Sharma, Anuja D Deshmukh, Munita M Bal, Devendra A Chaukar, Anil K Dcruz   +4 more
doaj   +1 more source

Cranial osteomyelitis in a patient with KID syndrome: Importance of thorough investigation in chronic wounds

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 5, Page 663-664, May 2026.
Michael Wolfgang Höner, Anabelle Kainz, Cornelia Erfurt‐Berge   +2 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

Urbach-Wiethe syndrome: report of two clinical cases

Dermatology Reports
Urbach-Wiethe syndrome, also known as lipoid proteinosis (LP), is a rare genodermatosis clinically characterized by mucocutaneous lesions, dysphonia with onset in early childhood, and, sometimes, neurological complications.
Ilaria Demofonte, Emanuele Miraglia, Giovanni Pellacani, Sandra Giustini   +3 more
doaj   +1 more source