Cosa (chi) è dyskeratosis congenita - definizione
Dyskeratosis congenita
RARE PROGRESSIVE CONGENITAL DISORDER WITH A HIGHLY VARIABLE PHENOTYPE
Zinsser–Cole–Engman syndrome; Dyskeratosis congenita (Zinsser-Cole-Engman syndrome); Zinsser-Engman-Cole syndrome; Zinsser-Cole-Engman syndrome; XL-dyskeratosis congenita
James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology.
Pachyonychia congenita
RARE GROUP OF AUTOSOMAL DOMINANT SKIN DISORDERS THAT ARE CAUSED BY A MUTATION IN ONE OF FIVE DIFFERENT KERATIN GENES
Pachyonychia; Pachyonychia congenita type I; Pachyonychia congenital type I; Jadassohn-Lewandown-Sky syndrome; Pachyonychia congenita type II; Jackson-Lawler pachyonychia congenita; Jackson-Sertoli syndrome; Jackson-Lawler type pachyonychia congenita; Jadassohn–Lewandowsky syndrome; Jackson–Lawler pachyonychia congenita; Jackson–Sertoli syndrome; Jadassohn-Lewandowsky syndrome; Pachyonychia congenita type III; Schafer-Brunauer syndrome; Jackson-Lawler syndrome; Jadasssohn-Lewandowsky syndrome; Jadassohn Lewandowsky syndrome; Pachyonychia congenita Jackson Lawler type; Pachyonychia congenita Jackson–Lawler type; Pachyonychia congenita Jackson-Lawler type; Pachyonychia congenita type 1; Pachyonychia congenita type 2
Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain.
Dyskeratosis
MEDICAL CONDITION
Cutaneous dyskeratosis
Dyskeratosis is abnormal keratinization occurring prematurely within individual cells or groups of cells below the stratum granulosum.Kumar, Vinay; Fausto, Nelso; Abbas, Abul (2004) Robbins & Cotran Pathologic Basis of Disease (8th ed.
