Results 61 to 70 of about 2,708 (203)

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, Volume 42, Issue 6, Page 1239-1247, November/December 2025.
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

BG13: A review of oral retinoid therapy for patients with inherited disorders of keratinization attending tertiary referral genodermatosis services [PDF]

, 2021

openalex   +1 more source

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

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Michael Wolfgang Höner, Anabelle Kainz, Cornelia Erfurt‐Berge   +2 more
wiley   +1 more source

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

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT 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 acid and urea. Early recognition and ongoing care improve the quality of life for patients
Dyala Sayed Ahmad, Rim Nasser, Moatasem Hussein Al‐janabi, Fouz Hassan   +3 more
wiley   +1 more source

“Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”: Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires

Italian Journal of Pediatrics
Background Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma.
May El Hachem, Andrea Diociaiuti, Giovanna Zambruno, Tonia Samela, Francesca Ferretti, Claudia Carnevale, Renata Linertová, Christine Bodemer, Dédée F. Murrell, Damiano Abeni   +9 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, EarlyView.
Oliver Brandt, Stephanie M. Huber, Simon M. Mueller   +2 more
wiley   +1 more source

Biologics and Small‐Molecule Therapies in Netherton Syndrome: A Comprehensive Review

The Journal of Dermatology, Volume 52, Issue 10, Page 1483-1493, October 2025.
ABSTRACT Netherton syndrome (NS) is a rare congenital ichthyosis caused by loss‐of‐function mutations in the SPINK5 gene, leading to defective expression of the serine protease inhibitor LEKTI. Dysregulated epidermal protease activity results in impaired skin barrier function and chronic inflammation, accompanied by complex immune profiles. NS patients
Shin Morizane, Tomoyuki Mukai, Ko Sunagawa, Ken‐ichi Hasui, Anri Morita, Hayato Nomura, Mamoru Ouchida   +6 more
wiley   +1 more source

First‐Tier Versus Last‐Tier Trio Whole‐Genome Sequencing for the Diagnosis of Pediatric‐Onset Rare Diseases

Clinical Genetics, Volume 108, Issue 4, Page 412-421, October 2025.
This study shows increased diagnostic rates and clinical utility of trio‐Whole‐Genome Sequencing (WGS) as a first‐tier test for both critical and non‐critical patients with suspected genetic pediatric‐onset conditions. It also demonstrates the feasibility of implementing a genome‐first diagnostic approach into routine clinical practice in a public ...
Camilla Lucca, Erica Rosina, Lidia Pezzani, Daniela Piazzolla, Luigina Spaccini, Agnese Scatigno, Serena Gasperini, Laura Pezzoli, Anna Cereda, Donatella Milani, Elisa Cattaneo, Ugo Cavallari, Marco Frigeni, Daniela Marchetti, Cecilia Daolio, Laura Giordano, Matteo Bellini, Lucrezia Goisis, Chiara Mongodi, Davide Tonduti, Alba Pilotta, Giovanni Cazzaniga, Francesca Furlan, Maria Francesca Bedeschi, Giovanna Mangili, Ezio Bonanomi, Maria Iascone   +26 more
wiley   +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

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