Skin manifestations of Bardet–Biedl syndrome

Torchia, Daniele; Schachner, Lawrence A.

doi:10.1111/j.1365-4632.2011.04917.x

Cited by 4 publications

(7 citation statements)

References 9 publications

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“…Considering the prevalence of obesity in the cohort, it is not surprising that striae, acanthosis nigricans, acrochordons, and intertrigo were observed to be similar to published reports in the general obese population ,. Obesity is a comorbidity factor in psoriasis, and individuals with BBS have been previously reported to have psoriasis . Obesity, likewise, is a comorbidity for hidradenitis suppurativa and CARP and may contribute to the appearance of these skin disorders in our cohort …”

Section: Discussionsupporting

confidence: 89%

“…[24][25][26]29 Obesity is a comorbidity factor in psoriasis, and individuals with BBS have been previously reported to have psoriasis. 8,9 Obesity, likewise, is a comorbidity for hidradenitis suppurativa and CARP and may contribute to the appearance of these skin disorders in our cohort. 30,31 2 (100) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) BBS5 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (100) BBS6 (2) 2 (100) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) BBS7 (1) 1 (100) 1 (100) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) BBS10 (7) 6 (86) 5 In contrast, nevi, hyperpigmentation, hypopigmentation, or hypopigmented lesions were not observed more commonly in our cohort than expected.…”

Section: Discussionmentioning

confidence: 81%

“…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%

“…A distinct association of BBS with cutaneous diseases has been suggested, although not definitively identified. 8,9,13,14 It has been established that primary cilia are prevalent in epidermal and dermal cells and perform vital functions for integument health beginning in embryogenesis and persisting thereafter, suggesting that cutaneous disorders would be anticipated in BBS and other ciliopathies. 1,2,[15][16][17] Furthermore, BBS is associated with comorbidities that impact skin health such as obesity, diabetes mellitus, dyslipidemia, chronic kidney and liver disease, and endocrine dysfunction.…”

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: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cutaneous findings in Bardet‐Biedl syndrome

2019

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Linear porokeratosis associated with Bardet‐Biedl syndrome: A case report

Tappel

Tiwari

Zlotoff

2019

Pediatric Dermatology

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| INTRODUC TI ONBardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy with heterogenous, multisystem presentations. BBS affects fewer than 20 000 individuals in the United States and has been associated with mutations in more than 20 distinct genes. Genes involved in BBS encode proteins that play an integral role in ciliary biogenesis and trafficking; mutations result in ciliary dysgenesis and dysfunction. 1 Clinical presentation of BBS is variable. Primary features are rodcone dystrophy, postaxial polydactyly, obesity, reduced intelligence, renal dysfunction, and hypogonadism. Secondary features are numerous and include hepatic fibrosis, diabetes mellitus, hypercholesterolemia, reproductive abnormalities, short stature, speech defects, developmental delay, hearing loss, dental abnormalities, psychiatric disturbances, hypertension, cardiovascular anomalies, ataxia, and craniofacial dysmorphism. Diagnostic criteria for BBS are based on the presence of either 4 primary features or 3 primary and 2 secondary features. 2 Cutaneous features are not classically associated with BBS, although the mouse model for the syndrome displays abnormalities in hair growth and epidermal differentiation. 3 Herein, we present the first case of linear porokeratosis (LP) in a patient with Bardet-Biedl syndrome. | C A S E REP ORTA 17-year-old boy with BBS (rod-cone dystrophy, scoliosis, hepatic fibrosis, and morbid obesity) and associated stage III chronic kidney disease (CKD) (awaiting transplant) presented to clinic with complaints of a hyperpigmented rash on the left trunk and left upper extremity. The rash developed at the age of 7 years and has remained asymptomatic since its appearance. Family history was negative for both BBS and similar cutaneous findings. Examination of the skin revealed multiple red-to-brown, annular, thin papular lesions with an atrophic center and hyperkeratotic rim in a Blaschkoid distribution on the left back, left chest, and left ventral arm (Figure 1). Physical examination was also notable for acanthosis nigricans on the bilateral dorsal hands and venous stasis with lichenification of the bilateral lower extremities. Differential diagnosis included LP, lichen striatus, and inflammatory linear verrucous epidermal nevus. A 4 mm punch biopsy was performed on a lesion from the chest. On histology, the lesion showed nonspecific inflammatory infiltrate, acanthosis, pigment incontinence, and focal cornoid lamella consistent with a diagnosis of LP (Figure 2). Abstract This case report presents a 17-year-old boy with Bardet-Biedl syndrome (BBS) and a long-standing hyperpigmented eruption on the left trunk and upper extremity, clinically and histologically consistent with linear porokeratosis (LP). BBS patients frequently require solid organ transplant, and subsequent immunosuppression places them at especially high risk for malignant transformation of premalignant skin lesions such as LP. Although BBS affects multiple organ systems, there are only a handful of case reports detailing associated cuta...

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T cell-specific deficiency in BBSome component BBS1 interferes with selective immune responses

Stump

Guo

Rahmouni

2023

American Journal of Physiology-Regulatory, Integrative and Comp

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Bardet Biedl syndrome (BBS) is a genetic condition associated with various clinical features including cutaneous disorders and certain autoimmune and inflammatory diseases pointing to a potential role of BBS proteins in the regulation of immune function. BBS1 protein which is a key component of the BBSome, a protein complex involved in the regulation of cilia function and other cellular processes, has been implicated in the immune synapse assembly by promoting the centrosome polarization to the antigen presenting cells. Here, we assessed the effect of disrupting the BBSome, through Bbs1 gene deletion, in T cells. Interestingly, mice lacking the Bbs1 gene specifically in T cells (T-BBS1-/-) displayed normal body weight, adiposity, and glucose handling, but have smaller spleens. However, T-BBS1-/- mice had no change in the proportion and absolute number of B cells and T cells in the spleen and lymph nodes. There was also no alteration in the CD4/CD8 lineage commitment or survival in the thymus of T-BBS1-/- mice. On the other hand, T-BBS1-/- mice treated with Imiquimod dermally exhibited significantly higher percentage of CD3-positive splenocytes that was due to CD4 but not CD8 T cell predominance. Notably, we found that T-BBS1-/- mice had significantly decreased wound closure, an effect that was more pronounced in males indicating that the BBSome plays an important role in T cell-mediated skin repair. Together, these findings implicate the BBSome in the regulation of selective functions of T cells.

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Skin manifestations of Bardet–Biedl syndrome

Cited by 4 publications

References 9 publications

Cutaneous findings in Bardet‐Biedl syndrome

Cutaneous findings in Bardet‐Biedl syndrome

Linear porokeratosis associated with Bardet‐Biedl syndrome: A case report

T cell-specific deficiency in BBSome component BBS1 interferes with selective immune responses

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