Recalcitrant psoriasis vulgaris associated with Laurence–Moon–Biedl syndrome

Abstract

We report a 30-year-old European (Ashkenazi Jewish) male with Laurence-Moon-Biedl syndrome (Bardet-Biedl type) who was hospitalized because of severe recalcitrant plaque-type psoriasis. Laurence-Moon-Biedl syndrome has been shown to be linked to the chromosome 11q region in the majority of the patients of European descent. The same 11q region had increased frequency of aberrations in the study that included cytogenetic analysis of 477 psoriatic patients. The animal model of the syndrome (mice) showed abnormalities in hair growth and epidermal differentiation. This genetic association between Laurence-Moon-Biedl syndrome and psoriasis can contribute to the understanding of the factors involved in the initiation of psoriasis and factors that modulate its severity and resistance to therapy.

Cutaneous findings in Bardet‐Biedl syndrome

“…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 …”

“…[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.…”

“…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 …”

“…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).…”

“…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.…”