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

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.

Angiomiofibroblastoma de la vagina: reporte de un caso y revisión de la literatura / Angyiomyofibroblastoma of the vagina: a case repoprt and literature review

El angiomiofibroblastoma es un tumor mesenquimatoso benigno localizado con mayor frecuencia en la vulva. Este fue descrito por Fletcher y col. en 1992, con el objetivo de distinguirlo del angiomixoma agresivo. Se reporta el caso de una mujer de 49 años de edad, con tumor vaginal pediculado con tallo en fondo de saco vaginal posterior de 6 cm, caracterizado por una proliferación benigna de células ligeramente epitelioides, con numerosos vasos sanguíneos y bien limitada. Por inmunohistoquímica fue positiva para vimentina, desmina, antígeno de músculo específico y receptores estrogénicos. El angiomiofibroblastoma es un tumor casi exclusivo de mujeres (promedio de edad de 42 años) localizado con mayor frecuencia en el área genital, y correspondiendo el 3.6 por ciento a vagina. Es un tumor benigno y que debe de diferenciarse de otras neoplasias de aspecto mixoide que se presentan en esta misma localización.