title: Acrodermatitis continua of Hallopeau is a clinical phenotype of DITRA: evidence that it is a variant of pustular psoriasis.
abstract: Acrodermatitis continua of Hallopeau (ACH) is a rare, chronic, sterile, pustular eruption that predominantly affects the fingertips with nail involvement. While some consider ACH a distinct entity, many believe it to be a variant of pustular psoriasis, especially as cases of ACH progressing to generalized pustular psoriasis (GPP) have been reported. Recently, recessively inherited mutations in the IL36RN gene, which encodes interleukin-36 receptor antagonist (IL-36Ra), have been demonstrated to be the cause of familial GPP, a condition termed DITRA (deficiency of IL-36Ra). Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP.
authors: Department of Dermatology, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon.
authors: Ossama
authors: O
authors: Abbas
authors: Salam
authors: S
authors: Itani
authors: Samer
authors: S
authors: Ghosn
authors: Abdul Ghani
authors: AG
authors: Kibbi
authors: Georges
authors: G
authors: Fidawi
authors: Muhammad
authors: M
authors: Farooq
authors: Yutaka
authors: Y
authors: Shimomura
authors: Mazen
authors: M
authors: Kurban
mesh_terms: D000169:Acrodermatitis / Q000235:genetics* / Q000473:pathology; D000328:Adult; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007378:Interleukins / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011565:Psoriasis / Q000235:genetics* / Q000473:pathology; D018123:Receptors, Interleukin / Q000172:deficiency / Q000235:genetics
chemical_list: C122187:IL36RN protein, human; D007378:Interleukins; D018123:Receptors, Interleukin