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- Title
Recurrent hoarseness in a 12-year-old female patient with pachyonychia congenita type 1: case report and literature review.
- Authors
Hogendorf, Anna; Wojtkiewicz-Malicka, Małgorzata; Niebudek-Bogusz, Ewa; Cywińska-Bernas, Agnieszka; Kaszuba, Andrzej; Zeman, Krzysztof
- Abstract
We report a phoniatric evaluation of a 12-year-old female with pachyonychia congenita type 1 (Jadassohn-Lewandowsky syndrome) and recurrent hoarseness. Pachyonychia congenita (PC) is an ultra rare genetic disorder of keratinisation that predominantly affects not only the nails, skin, hair, but also orał mucosae and larynx. Hoarseness is reported in 16% of patients with this disease and is attributed to laryngeal leukoplakia. However, assess-ment of this symptom in most PC cases is subjective and a detailed phoniatric assessment of patients with PC and hoarseness has not been described in the literature so far.
- Subjects
SKIN diseases; HOARSENESS; KERATINIZATION; GENETIC disorders; LEUKOPLAKIA
- Publication
Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2012, Vol 29, Issue 3, p222
- ISSN
1642-395X
- Publication type
Article