Knuckle Pads, Leukonychia and Deafness

Köse, Özkan; Baloğlu, Hüseyi̇n

doi:10.1111/j.1365-4362.1996.tb00649.x

Cited by 10 publications

(5 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Recognized as a distinct form of ectodermal dysplasia and syndromic PPK (OMIM#149200), several families and sporadic cases have been reported since, often with a striking and partially agedependent variability in clinical features between family members (Schwann, 1963;Crosby and Vidurrizaga, 1976;Crosti et al, 1983;Ramer et al, 1994;Kose and Baloglu, 1996).…”

mentioning

confidence: 97%

Expanding The Phenotypic Spectrum of Cx26 Disorders: Bart–Pumphrey Syndrome is Caused by a Novel Missense Mutation in GJB2

Richard

Brown

Ishida‐Yamamoto

et al. 2004

Journal of Investigative Dermatology

106

View full text Add to dashboard Cite

Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability. The clinical features partially overlap with Vohwinkel syndrome and Keratitis-Ichthyosis-Deafness syndrome, both disorders caused by dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26, suggesting an etiological relationship. We report here a novel GJB2 mutation N54K segregating in a family with BPS, which was not detected in 110 control individuals of Northern European ancestry. This non-conservative missense mutation lies within a cluster of pathogenic GJB2 mutations affecting the evolutionary conserved first extracellular loop of Cx26 important for docking of connexin hemichannels and voltage gating. Immunostaining of Cx26 in lesional palmar and knuckle skin was weak or absent, although its adnexal expression appeared normal and the punctate membrane staining of Cx26 and other epidermal connexins was not altered. Nevertheless, the widespread immunostaining of Cx30 throughout the spinous cell layers suggested a compensatory overexpression. Our results emphasize that pleiotropic GJB2 mutations are responsible for at least 5 overlapping dermatological disorders associated with syndromic hearing loss and cover a wide range of severity and organ involvement.

show abstract

mentioning

confidence: 97%

Expanding The Phenotypic Spectrum of Cx26 Disorders: Bart–Pumphrey Syndrome is Caused by a Novel Missense Mutation in GJB2

Richard

Brown

Ishida‐Yamamoto

et al. 2004

Journal of Investigative Dermatology

106

View full text Add to dashboard Cite

show abstract

“…These lesions have no specific age predilection and tend to be asymptomatic aside from the resulting cosmetic deformity. Although most knuckle pads are idiopathic in origin, some practitioners relate their formation to trauma 40,41 or genetic factors, 42,43 particularly in patients with Dupuytren's contracture 44,45 in whom they occur four times more frequently. Garrod's nodes demonstrate hyperkeratosis and hypergranulosis along with fibroblastic proliferation that develops into a dense fibrosis 46 and are most effectively treated with excision if they cause functional or significant aesthetic problems 47 .…”

mentioning

confidence: 99%

Soft Tissue Tumors of the Hand. 1. Benign

Sobanko¹,

Dagum²,

Davis³

et al. 2007

Dermatol Surg

View full text Add to dashboard Cite

Soft tissue tumors of the hand arise from skin, subcutaneous tissue, tendons, nerve, and blood vessels. Many of these lesions occur on other parts of the body; however, the hand remains a unique site because these tumors have symptoms, appearances, treatments, and prognoses that may be quite different than when on other parts of the body. Their characteristics and the severity of symptoms vary markedly depending on the exact location, size, and type of tumor-and many of these tumors can have multiple forms of presentation. Two articles are intended to provide an overview of benign (this article) and malignant tumors (subsequent issue) of the hand. The rarer and more deleterious tumors are discussed in detail while the common tumors and epidermal lesions with which practitioners are familiar are briefly overviewed. At the completion of these review articles, participants should be able to identify and diagnose various benign and malignant hand tumors as well as understand the accepted current treatment of these growths.

show abstract

“…The autors emphasized that GJB2 mutations were responsible for dermatological disorders associated with syndromic hearing loss. [10] We could not investigate GJB2 mutation in our cases.…”

Section: Discussionmentioning

confidence: 89%

“…To date, the number of case reports or clinical series about BPS is less than 10. [1,[3][4][5][8][9][10] Hearing loss and knuckle pads are the most common findings of this syndrome. Leukonychia and palmoplantar hyperkeratosis are seen less frequently in BPS [ Table 2].…”

Section: Discussionmentioning

confidence: 99%

A family of Bart-Pumphrey syndrome

Gönül¹,

Gül²,

Hizli³

et al. 2012

Indian J Dermatol Venereol Leprol

View full text Add to dashboard Cite

Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. Two mutations in the extracellular domain of GBJ2 are resposible for this syndrome. To date, less than 10 case reports or clinical series about BPS have been published in the literature. Hearing loss and knuckle pads are the more commonly seen findings of this syndrome. Three generations and six family members with variable findings of knuckle pads, leukonychia, hearing loss and palmoplantar hyperkeratosis were presented in this report. We want to emphasize that dermatogists must be alert during the evaluation of these findings because some findings of this disorder may be vague or absent.

show abstract

Knuckle Pads, Leukonychia and Deafness

Cited by 10 publications

References 3 publications

Expanding The Phenotypic Spectrum of Cx26 Disorders: Bart–Pumphrey Syndrome is Caused by a Novel Missense Mutation in GJB2

Expanding The Phenotypic Spectrum of Cx26 Disorders: Bart–Pumphrey Syndrome is Caused by a Novel Missense Mutation in GJB2

Soft Tissue Tumors of the Hand. 1. Benign

A family of Bart-Pumphrey syndrome

Contact Info

Product

Resources

About