title: Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome.
abstract: Mutations in SLC29A3 lead to pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy plus syndrome. We report a new association of PHID syndrome with severe systemic inflammation, scleroderma-like changes, and cardiomyopathy. A 12-year-old girl with PHID syndrome presented with shortness of breath, hepatosplenomegaly, and raised erythrocyte sedimentation rate and C-reactive protein. An echocardiogram showed biventricular myocardial hypertrophy, and cardiac magnetic resonance imaging showed circumferential late gadolinium enhancement of the myocardium. No systemic amyloid deposits were observed on a whole-body serum amyloid P scintigraphy scan. Abdominal ultrasound revealed intra-abdominal fat surrounding the solid organs, suggesting a possibility of evolving lipodystrophy with visceral adiposity. PHID syndrome is a novel monogenic autoinflammatory syndrome (AIS) associated with severe elevation of serum amyloid. Lipodystrophy, cutaneous sclerodermatous changes, and cardiomyopathy were also present in this case. In contrast to other AIS, blockade of interleukin-1 and tumor necrosis-α was ineffective.
authors.forename: Senthil
authors.initials: S
authors.lastname: Senniappan
authors.forename: Marina
authors.initials: M
authors.lastname: Hughes
authors.forename: Pratik
authors.initials: P
authors.lastname: Shah
authors.forename: Vanita
authors.initials: V
authors.lastname: Shah
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Kaski
authors.forename: Paul
authors.initials: P
authors.lastname: Brogan
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
mesh_terms: D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D002648:Child; D003241:Consanguinity; D003286:Contracture / Q000188:drug therapy / Q000276:immunology / Q000503:physiopathology*; D058065:Diabetic Cardiomyopathies / Q000188:drug therapy / Q000276:immunology / Q000503:physiopathology*; D018432:Drug Resistance, Multiple; D004417:Dyspnea / Q000209:etiology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000188:drug therapy / Q000276:immunology / Q000503:physiopathology*; D056660:Hereditary Autoinflammatory Diseases / Q000188:drug therapy / Q000276:immunology / Q000503:physiopathology*; D015614:Histiocytosis / Q000188:drug therapy / Q000276:immunology / Q000503:physiopathology*; D006801:Humans; D053609:Lethargy / Q000209:etiology; D008060:Lipodystrophy / Q000209:etiology; D045745:Scleroderma, Limited / Q000209:etiology; D012720:Severity of Illness Index; D018746:Systemic Inflammatory Response Syndrome / Q000209:etiology
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal