Results 71 to 80 of about 4,685 (212)

Fibroepithelioma of Pinkus: Solitary tumor or sign of a complex gastrointestinal syndrome [PDF]

, 2016
Fibroepithelioma of Pinkus (FEP), which is considered to be an uncommon variant of basal cell carcinoma, has been described in association with other systemic diseases. However, no specific studies are currently available on this subject.
LONGO, Caterina, MANDEL, Victor Desmond, PELLACANI, Giovanni, PONTI, Giovanni, TOMASI, Aldo   +4 more
core   +2 more sources

Incontinentia pigmenti with neurologic and oculodental disorders

Indian Journal of Paediatric Dermatology, 2016
Incontinentia pigmenti is a genodermatosis with X-linked dominant inheritance, characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities with a pattern suggestive of somatic mosaicism.
Jorge Arturo Avina Fierro, Daniel A Hernandez Avina   +1 more
doaj   +1 more source

Dyskeratosis congenita: a case report and review of literature [PDF]

, 2014
Dyskeratosis congenita (DC) is classically characterised by a mucocutaneous triad of reticulated poikiloderma, nail dystrophy and mucosal leukoplakia together with bone marrow failure and increased risk of malignancy1- 4.
Kader Ibrahim, Sabeera Begum, Shamsudin, Norashikin   +1 more
core  

Epidermolysis bullosa simplex with mottled pigmentation: a family report and review [PDF]

, 2013
Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members.
Colmenero, Isabel, Echeverría García, Begoña, Escámez Toledano, María José, González Enseñat, María A., Hernández, Ángela, Mascaró, José M., Río Nechaevsky, Marcela del, Terrón, Ana, Torrelo Fernández, Antonio, Vicente, Asunción   +9 more
core   +3 more sources

Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang, Qing Zhao, Hong Liu, Furen Zhang, Zhiqiang Song   +4 more
wiley   +1 more source

A Case of Acrokeratosis Verruciformis Treated with Acitretin [PDF]

, 2009
Acrokeratosis Verruciformis is a rare autosomal dominant genodermatosis. Typically, the lesions are small, verrucous, flat papules on the dorsal aspects of the hands and feet, elbows and knees.
Ayten Ferahbaş, Ebru Güler, Olgun Kontaş, Serap Utaş   +3 more
core  

Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease [PDF]

, 2020
A distinct Darier phenotype presenting with confetti-like hypopigmented macules was first described in 1965. Designated as "guttate leukoderma," this skin finding is a rarely-reported presentation of Darier disease.
Grossman, Shoshana K, Hsu, Sylvia, Lee, Jason B, Sun, Christina W, Valdes-Rodriguez, Rodrigo   +4 more
core  

Incontinentia Pigmenti in the Neonatal Period [PDF]

, 2011
Incontinentia pigmenti (IP) is a rare multisystem disease, X linked dominant disorder. As all X linked dominant diseases, it is usually male-lethal. Female newborn admitted to the neonatal intensive care unit on the fi rst day of life was diagnosed as ...
Barroso, R, Carreiro, H, Diamantino, F, Paiva Lopes, MJ, Rodrigues, V, Sousa Cunha, M, Voutsen, O   +6 more
core   +2 more sources

Brooke–Spiegler Syndrome With Simultaneous Occurrence of Cylindroma, Spiradenoma, and Trichoepithelioma: A Rare Case With Malignant Progression

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Brooke–Spiegler syndrome (BSS) is a rare autosomal dominant disorder characterized by multiple adnexal tumors. Malignant transformation is uncommon, and the simultaneous occurrence of cylindroma, spiradenoma, and trichoepithelioma with progression to basal cell carcinoma (BCC) has rarely been documented.
Parastou Gorovanchi, Mohammed Busehail, Ehsan Emami, Masooma Yaqoob, Mahsa Faramin Lashkarian, Nima Khalili, Nima Eftekhari, Sepideh Hadimaleki, Bahareh Mehramouz   +8 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