Endocrine Abstracts

Introduction: Hidradenitis suppurativa (HS), also known as acne in-versa is a chronic inflammato-ry dermatosis. Emerging evidence suggests that HS is associated with other comorbidities, while data concerning the coexistence of HS and Down syndrome (DS) are scarce. We report the case of a young male affected by DS and HS that suffers from multiple endocrine disturbances.

Observation: A 23-year-old overweight male (BMI 32 kg/m²) with a 9-year history of HS presented with follicular lesions, most notably epidermal cysts, pilonidal sinus, and comedones (Hurley stage 2) in axillae, intergluteal folds, scalp and back. According to the Canoui-Poitrine classification, the patient presented the phenotype «follicular ». Laboratory investigations revealed glucose intolerance, hypercholesterolemia and hypothyroidism requiring treatment with L-thyroxine.

Discussion: HS is a systemic inflammatory disease that could be as-sociated with other comorbidities such as metabolic syn-drome, chronic intestinal diseases, and depression. New studies suggest the association of this dermatosis with other comorbidities. A syndromic con-dition including both HS, DS and various endocrine abnormalities has been previously described, but only in a few studies. Indeed, a retrospective study including 783 affected by DS estimates the prevalence of SH in these patients, up to 14.6% against 1% in the general French population. The underlying molecular mechanisms ex-plaining the association of HS with DS, are not still com-pletely known. Evidence suggests that the increased ex-pression of amyloid precursor protein, encoded by a gene located on chromosome 21, might enhance keratinocyte activity, leading to impaired Notch signaling and the development of cutaneous lesions resembling to HS. DS is the most common chromosomal disorder, with a phenotype including a wide range of congenital heart defects, neurological abnor-malities, dermatological disorders such as alopecia areata and acne, as well as a variety of endocrine disorders. There is frequently an obesity in both diseases, HS and DS. Hypothyroidism are more common thyroid disturbance in DS, usually autoimmune hypothyroidism, sometimes Graves’ disease. An international multicenter study report 56 cases affected by both DS and HS, 32% of them suffers from hypothyroidism.

Conclusion: Various endocrine abnormalities could occur during HS, more common in patients affected by DS. Further studies are needed to support this hypothesis, as well as research focused on the involved inflammatory mechanisms, so to develop novel therapeutic options for this debilitating disease and its comorbidities.