Cutaneous Manifestations in Kartagener’s Syndrome: Folliculitis, Nummular Eczema and Pyoderma gangraenosum

Vázquez, J. J.; Fernández‐Redondo, Virginia; Sánchez‐Aguilar, D.; Toribio, J.

doi:10.1159/000247369

Cited by 5 publications

(2 citation statements)

References 12 publications

(18 reference statements)

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“…Ciliopathies are divided into primary (nonmotile) ciliopathies, such as polycystic kidney disease and Bardet‐Biedl syndrome, and motile ciliopathies, represented by diseases such as Kartagener's syndrome and primary ciliary dyskinesia . Cutaneous lesions have been reported in these and other ciliopathies; however, prospective, observational studies of skin diseases in ciliopathies are lacking in the literature . The pleiotropic ciliopathy Bardet‐Biedl syndrome (BBS; MIM 209900) provides a mechanistic model for disorders of the cilia and offers the opportunity to explore cutaneous diseases among ciliopathies …”

Section: Introductionmentioning

confidence: 99%

“…4,5 Cutaneous lesions have been reported in these and other ciliopathies; however, prospective, observational studies of skin diseases in ciliopathies are lacking in the literature. [6][7][8][9] The pleiotropic ciliopathy Bardet-Biedl syndrome (BBS; MIM 209900) provides a mechanistic model for disorders of the cilia and offers the opportunity to explore cutaneous diseases among ciliopathies. 10 BBS is a rare genetic disease with a prevalence in the nonconsanguineous populations of Northern Europe and North America ranging between 1 in 100,000 (North America) and 1 in 160,000 (Switzerland).…”

Section: Introductionmentioning

confidence: 99%

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Cutaneous findings in Bardet‐Biedl syndrome

2019

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Background Bardet‐Biedl syndrome (BBS) is a rare, pleiotropic syndrome and member of a diverse group of disorders known as ciliopathies. Improved understanding of dermatoses in BBS will further understanding of the syndrome and will help define the role of dermatologists in providing care for patients with BBS. The purpose of this study was to describe the cutaneous phenotype of BBS in patients attending a large, multispecialty BBS clinic. Methods All patients attending the multispecialty BBS Clinic at the Marshfield Medical Center over a 12‐month period were invited to participate. Complete cutaneous examinations were performed by a board‐certified dermatologist, and comprehensive physical examinations were performed by clinic physicians. Molecular genetic results were obtained when available. Comprehensive laboratory studies were performed in each patient including fasting blood sugar and thyroid and renal function. Results Thirty‐one individuals ranging in age between 2 and 69 years (median age, 12 years) participated in the study. Cutaneous findings were present in all subjects. Keratosis pilaris was present in 80.6% of subjects, and seborrheic dermatitis was present in 19.3%. Obesity, a cardinal feature of BBS, was present in the majority of subjects (90.3%) and was accompanied by known obesity‐related dermatologic disorders. Conclusions Cutaneous disorders are common in BBS and suggest disturbance of keratinization and keratinocyte function as well as systemic consequences of BBS on skin health. Increased prevalence of skin barrier dysfunction in this ciliopathy demonstrates the importance of dermatologist contribution to health care in BBS.

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Section: Introductionmentioning

confidence: 99%