Bart-Pumphrey Syndrome

Classification according to ICD-10
Q82.8	Other specified congenital skin malformations
ICD-10 online (WHO version 2019)

The Bart-Pumphrey syndrome is a very rare congenital disease with the main features skin thickening on the finger and toe joints , leukonychia (white spots on the nails ) and deafness .

Synonyms are: ankle pad leukonychia numbness syndrome; Schwann syndrome

The names refer to the author of the first description from 1963 by the Polish dermatologist J. Schwann .

The delimitation of the syndrome was carried out in 1967 by the US dermatologist RS Bart and the ENT doctor R. E. Pumprey .

root cause

The disease are mutations in GJB2 - gene in chromosome 13 locus q12.11 basis.

Clinical manifestations

Clinical criteria are:

Knuckle pads over the interphalangeal joints of the fingers and / or toes already in babies or toddlers , possibly hyperkeratoses
Leukonychia beginning a little later
Inner ear hearing loss as a toddler

Possible in adults: keratosis palmoplantaris, hyperhidrosis , hypertrichosis , Dupuytren's disease

literature

G. Wagner, V. Meyer, MM Sachse: Leukonychia totalis. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Vol. 67, No. 4, April 2016, pp. 308-310, doi: 10.1007 / s00105-015-3736-4 , PMID 26676417 .
CH Hyman, PR Cohen: Report of a family with idiopathic knuckle pads and review of idiopathic and disease-associated knuckle pads. In: Dermatology online journal. Vol. 19, No. 5, May 2013, p. 18177, PMID 24011277 (Review).
JC Ramer, DB Vasily, RL Ladda: Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. In: Journal of Medical Genetics . Vol. 31, No. 1, January 1994, pp. 68-71, PMID 8151643 , PMC 1049604 (free full text).

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ J. SCHWANN: Keratosis palmaris et plantaris cum surditate congenita et leuconychia totali unguium. In: Dermatologica. Vol. 126, 1963, pp. 335-353, PMID 14046203 .
↑ RS Bart, RE Pumphrey: Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. In: The New England Journal of Medicine . Vol. 276, No. 4, January 1967, pp. 202-207, doi: 10.1056 / NEJM196701262760403 , PMID 6015974 .
↑ Bart-Pumphrey syndrome. In: Online Mendelian Inheritance in Man . (English)

Web links

Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome. In: Orphanet (Rare Disease Database).
Genetics Home Reference
Right diagnosis

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[2] J. SCHWANN: Keratosis palmaris et plantaris cum surditate congenita et leuconychia totali unguium. In: Dermatologica. Vol. 126, 1963, pp. 335-353, PMID 14046203 .

[3] RS Bart, RE Pumphrey: Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. In: The New England Journal of Medicine . Vol. 276, No. 4, January 1967, pp. 202-207, doi: 10.1056 / NEJM196701262760403 , PMID 6015974 .

[4] Bart-Pumphrey syndrome. In: Online Mendelian Inheritance in Man . (English)