Results 161 to 170 of about 2,708 (203)

The Price of Exposure: Xeroderma Pigmentosum and Skin Cancer. [PDF]

Cureus
Aneja S, Bhalla M, Jain T.
europepmc   +1 more source

Enfermedad de Darier Clásica (una genodermatosis inusual): descripción de un caso y revisión de la literatura

Fuentes Romero FE, Cabezas Echegoyen RV, Monge Vásquez, Maza de Franco CAM, Mejía Rodríguez   +4 more
openalex   +1 more source

A case of late-onset Dowling-Degos disease with hidradenitis suppurativa. [PDF]

JAAD Case Rep
Sollitto CF, Wolinsky C.
europepmc   +1 more source

Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study. [PDF]

Orphanet J Rare Dis
Herlin LK, Schmidt SAJ, Mogensen TH, Sommerlund M.   +3 more
europepmc   +1 more source

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Kindler syndrome: a focal adhesion genodermatosis

British Journal of Dermatology, 2009
Kindler syndrome (OMIM 173650) is an autosomal recessive genodermatosis characterized by trauma-induced blistering, poikiloderma, skin atrophy, mucosal inflammation and varying degrees of photosensitivity. Although Kindler syndrome is classified as a subtype of epidermolysis bullosa, it has distinct clinicopathological and molecular abnormalities.
Lai-Cheong, J. E., Tanaka, A., Hawche, G., Emanuel, P., Maari, C., Taskesen, M., Akdeniz, S., Liu, L., McGrath, J. A.   +8 more
exaly   +4 more sources

X-linked ichthyosis: An oculocutaneous genodermatosis

Journal of the American Academy of Dermatology, 2010
X-linked ichthyosis (XLI) is an X-linked recessive disorder of cutaneous keratinization with possible extracutaneous manifestations. It was first described as a distinct type of ichthyosis in 1965. XLI is caused by a deficiency in steroid sulfatase activity, which results in abnormal desquamation and a retention hyperkeratosis.
Neil F, Fernandes, Camila K, Janniger, Robert A, Schwartz   +2 more
exaly   +3 more sources

Human Leukocyte Antigen in Genodermatosis

International Journal of Dermatology, 1984
ABSTRACT: Tissue typing performed on the lymphocytes of 41 Patients, including: 23 patients with ichthyosis (15 of autosomal dominant and 8 of the x‐linded variety; 8 patients with tuberous sclerosis (epiloia); and 10 patients with acroder‐matitis enteropathica (AEP).
M, Amer, N, Afifi, I, Iskander, N, Diab
openaire   +2 more sources