An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy

Abhimanyu Garg, Maria Dolores Hernandez, Ana Berta Sousa, Lalitha Subramanyam, Laura Martínez De Villarreal, Heloísa G. Dos Santos, Oralia Barboza

Research output: Contribution to journalArticle

53 Citations (Scopus)

Abstract

Context: Genetic lipodystrophies are rare disorders characterized by partial or complete loss of adipose tissue and predisposition to insulin resistance and its complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, acanthosis nigricans, and polycystic ovarian syndrome. Objective: The objective of the study was to report a novel autosomal recessive lipodystrophy syndrome. Results: We report the detailed phenotype of two males and one female patient, 26-34 yr old, belonging to two pedigrees with an autosomal recessive syndrome presenting with childhood-onset lipodystrophy, muscle atrophy, severe joint contractures, erythematous skin lesions, and microcytic anemia. Other variable clinical features include hypergammaglobulinemia, hepatosplenomegaly, generalized seizures, and basal ganglia calcification. None of the patients had diabetes mellitus or acanthosis nigricans. Two had mild hypertriglyceridemia and all had low levels of high-density lipoprotein cholesterol. Skin biopsy of an erythematous nodular skin lesion from one of the patients revealed evidence of panniculitis. The lipodystrophy initially affected the upper body but later became generalized involving abdomen and lower extremities as well. Conclusions: We conclude that these patients represent a novel autoinflammatory syndrome resulting in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy. The molecular genetic basis of this disorder remains to be elucidated.

Original languageEnglish (US)
JournalJournal of Clinical Endocrinology and Metabolism
Volume95
Issue number9
DOIs
StatePublished - Sep 2010

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Panniculitis
Lipodystrophy
Muscular Atrophy
Contracture
Anemia
Skin
Joints
Medical problems
Muscle
Acanthosis Nigricans
Hypertriglyceridemia
Biopsy
Diabetes Mellitus
HDL Cholesterol
Hypergammaglobulinemia
Inborn Genetic Diseases
Insulin
Tissue
Polycystic Ovary Syndrome
Pedigree

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Endocrinology
  • Biochemistry, medical
  • Endocrinology, Diabetes and Metabolism
  • Medicine(all)

Cite this

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. / Garg, Abhimanyu; Hernandez, Maria Dolores; Sousa, Ana Berta; Subramanyam, Lalitha; De Villarreal, Laura Martínez; Dos Santos, Heloísa G.; Barboza, Oralia.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 95, No. 9, 09.2010.

Research output: Contribution to journalArticle

Garg, Abhimanyu ; Hernandez, Maria Dolores ; Sousa, Ana Berta ; Subramanyam, Lalitha ; De Villarreal, Laura Martínez ; Dos Santos, Heloísa G. ; Barboza, Oralia. / An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. In: Journal of Clinical Endocrinology and Metabolism. 2010 ; Vol. 95, No. 9.
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