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Latest Publications and Research on Skin Biopsy

Hum. Mutat.  2018 Jul 16  

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Hotz A, Bourrat E, Küsel J, Oji V, Alter S, Hake L, Korbi M, Ott H, Hausser I, Zimmer AD, Fischer J

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal sc... Read More

Source: PubMed


Int. J. Dermatol.  2018 Jul 16  

Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.

Nanda A, Liu L, Al-Ajmi H, Al-Saleh QA, Al-Fadhli S, Anim JT, Ozoemena L, Mellerio JE, McGrath JA

Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous blistering skin disease, but in countries such as Kuwait, there are very limi... Read More

Source: PubMed

Int. J. Dermatol.  2018 Jul 16  

Pemphigus herpetiformis in South Tunisia: a clinical expression of pemphigus foliaceus?

Jerbi A, Hachicha H, Feki S, Bahloul E, Sellami K, Abida O, Charfi S, Bouzid A, Sellami Boudawara T, Turki H, Masmoudi A, Masmoudi H

Pemphigus herpetiformis (PH) is a rare subtype of pemphigus combining clinical features of dermatitis herpetiformis and the immunopathologic character... Read More

Source: PubMed

J Bras Nefrol  2018 Jul 10  

Furosemide-induced pseudoporphyria in a patient with chronic kidney disease: case report.

Pavanelli GM, Milano SS, Sevignani G, Jung JE, Funke VAM, Nascimento MMD

Pseudoporphyria is a rare photodermatosis with characteristics similar to those of porphyria cutanea tarda, without, however, presenting abnormalities... Read More

Source: PubMed

Pediatr Blood Cancer  2018 Jul 16  

Glioblastoma, 47XXY/45,X mosaicism, and hyperpigmented skin lesions.

Bautista F, Fioravantti V, Hernández C, de Prada I, López-Pino MÁ, Ramírez M, Madero L, Moreno L

... Read More

Source: PubMed

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