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

Journal of Pediatric Endocrinology and Metabolism

Volumn 26, Issue 9-10, 2013, Pages 877-882

  Senniappan, Senthil ^a,b   Hughes, Marina ^b   Shah, Pratik ^a,b   Shah, Vanita ^a,b   Kaski, Juan Pablo ^b   Brogan, Paul ^a,b   Hussain, Khalid ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Cardiomyopathy; Chronic inflammation; Diabetes mellitus

Indexed keywords

ADALIMUMAB; C REACTIVE PROTEIN; CYTOKINE; ELASTASE; GADOLINIUM; IMMUNOGLOBULIN G1; IMMUNOGLOBULIN G3; INSULIN; INTERLEUKIN 6; METHYLPREDNISOLONE; PANCREAS ENZYME; PREDNISOLONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SERUM AMYLOID A; SERUM AMYLOID P; TUMOR NECROSIS FACTOR ALPHA;

ABDOMINAL OBESITY; ANEMIA; ARTICLE; ASTIGMATISM; AUDIOMETRY; AUTOINFLAMMATORY DISEASE; CARDIOMYOPATHY; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; CHILD; CHRONIC DIARRHEA; CHRONIC INFLAMMATION; CONDUCTION DEAFNESS; CONTRAST ENHANCEMENT; DERMATITIS; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG TREATMENT FAILURE; DYSPNEA; ECHOCARDIOGRAPHY; ECHOGRAPHY; ENZYME LINKED IMMUNOSORBENT ASSAY; ENZYME REPLACEMENT; ERYTHROCYTE SEDIMENTATION RATE; FEMALE; FEVER; GENETIC SCREENING; HEART AMYLOIDOSIS; HEART LEFT VENTRICLE FAILURE; HEART RIGHT VENTRICLE HYPERTROPHY; HEART VENTRICLE HYPERTROPHY; HEPATOSPLENOMEGALY; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; HYPERTRICHOSIS; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN TREATMENT; INTRAABDOMINAL FAT; LETHARGY; LIPID STORAGE; LIPODYSTROPHY; LYMPH NODE BIOPSY; LYMPHADENOPATHY; MONOGENIC DISORDER; MYOPIA; PANCREAS EXOCRINE INSUFFICIENCY; PERICARDIAL EFFUSION; PHYSICAL EXAMINATION; PIGMENTARY HYPERTRICHOSIS AND NON AUTOIMMUNE INSULIN DEPENDENT DIABETES MELLITUS SYNDROME; POLYDIPSIA; POLYURIA; RECURRENT DISEASE; REPEAT PROCEDURE; SCHOOL CHILD; SCLERODERMA; SHORT STATURE; SIDE EFFECT; SKIN BIOPSY; STUNTING; TYMPANOSTOMY TUBE; WEIGHT GAIN;

ANTI-INFLAMMATORY AGENTS, NON-STEROIDAL; CHILD; CONSANGUINITY; CONTRACTURE; DIABETIC CARDIOMYOPATHIES; DRUG RESISTANCE, MULTIPLE; DYSPNEA; FEMALE; HEARING LOSS, SENSORINEURAL; HEREDITARY AUTOINFLAMMATORY DISEASES; HISTIOCYTOSIS; HUMANS; LETHARGY; LIPODYSTROPHY; SCLERODERMA, LIMITED; SEVERITY OF ILLNESS INDEX; SYSTEMIC INFLAMMATORY RESPONSE SYNDROME;

EID: 84888188037     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2013-0062     Document Type: Article

References (20)

1. Hussain K, Padidela R, Kapoor RR, James C, Banerjee K, et al. Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. Pediatr Diabetes 2009;10: 193-7.
2. Prendiville J, Rogers M, Kan A, de Castro F, Wong M, et al. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? Pediatr Dermatol 2007;24: 101-7.
3. Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, et al. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet 2009;18: 2257-65.
4. Molho-Pessach V, Agha Z, Aamar S, Glaser B, Doviner V, et al. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol 2008;59: 79-85.
5. Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, et al. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet 2010;6: e1000833.
6. Spiegel R, Cliffe ST, Buckley MF, Crow YJ, Urquhart J, et al. Expanding the clinical spectrum of SLC29A3 gene defects. Eur J Med Genet 2010;53: 309-13.
7. Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, et al. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet 2008;83: 529-34.
8. Molho-Pessach V, Suarez J, Perrin C, Chiaverini C, Doviner V, et al. The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. J Dermatol Sci 2010;57: 59-61.
9. Elbarbary NS, Tjora E, Molnes J, Lie BA, Habib MA, et al. An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. Pediatr Diabetes 2012. doi: 10.1111/j.1399-5448.2012.00925.x [Epub ahead of print].
10. Marcu CB, Niessen HW, Beek AM, Brouwer WP, Robbers LF, et al. Cardiac involvement with amyloidosis: mechanisms of disease, diagnosis and management. Conn Med 2011;75: 581-90.
11. Misra A, Garg A. Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. Medicine (Baltimore) 2003;82: 129-46.
12. Torrelo A, Patel S, Colmenero I, Gurbindo D, Lendínez F, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and 2010;62: 489-95.
13. Torrelo A, España A, Boixeda P, Ledo A. Partial lipodystrophy and dermatomyositis. Arch Dermatol 1991;127: 1846-7.
14. Mallewa JE, Wilkins E, Vilar J, Mallewa M, Doran D, et al. HIV-associated lipodystrophy: a review of underlying mechanisms and therapeutic options. J Antimicrob Chemother 2008;62: 648-60.
15. Brown TT. Approach to the human immunodeficiency virusinfected patient with lipodystrophy. J Clin Endocrinol Metab 2008;93: 2937-45.
16. Kang N, Jun AH, Bhutia YD, Kannan N, Unadkat JD, et al. Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. J Biol Chem 2010;285: 28343-52.
17. Doviner V, Maly A, Ne'eman Z, Qawasmi R, Aamar S, et al. H syndrome: recently defined genodermatosis with distinct histologic features: a morphological, histochemical, immunohistochemical, and ultrastructural study of 10 cases. Am J Dermatopathol 2010;32: 118-28.
18. Hsu CL, Lin W, Seshasayee D, Chen YH, Ding X, et al. Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis. Science 2012;335: 89-92.
19. Melki I, Lambot K, Jonard L, Couloigner V, Quartier P, et al. Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition. Pediatrics 2013;131:e1308-13.
20. Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory disease reloaded: a clinical perspective. Cell 2010;140: 784-90.