Progressive Nodular Histiocytoma Associated with Thrombocytopenia with Absent Radii (TAR Syndrome) and Angiofibromas

Abstract

A 50-year-old woman was admitted due to a long-standing history of cutaneous lesions, which were gradually increasing in number and size, located on the trunk and extremities. Histological studies confirmed the initial clinical diagnosis of histiocytomas. Moreover, the patient had numerous smooth erythematous papules on her chin and around her nose, which were diagnosed histologically as angiofibromas. The patient had congenital phocomelia. Analytical and imaging studies revealed the presence of bilateral phocomelia due to absent radii and thrombocytopenia (TAR syndrome). Multiple histiocytomas in a normolipaemic patient bring up several differential diagnoses. Slow progressive evolution without spontaneous resolution and a scattered distribution on the trunk and extremities suggest the diagnosis of progressive nodular histiocytoma. To our knowledge progressive nodular histiocytoma has not been reported previously associated either with TAR syndrome or with angiofibromas. These entities are uncommon, thus their association may not be due to chance.

Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: An association not previously described

“…It may be associated with heart, genitourinary and other skeletal anomalies. In rare instances, several dermatologic anomalies such as hemangiomas, nevus flammeus, spotty alopecia, redundant nuchal skin folds, hyperhidrosis, progressive nodular histiocytoma and angiofibromas have also been reported in patients with TAR syndrome . Deletion on chromosome 1q21.1 is the molecular hallmark of TAR syndrome, although the pathogenic significance of this chromosomal abnormality has still to be elucidated …”

Progressive nodular histiocytosis: a case report and literature review

“…The associated findings include chronic myeloid leukemia, hepatosplenomegaly, hypothyroidism, hyperuricemia, and hypocholesterolemia in one patient, 9 precocious puberty, growth hormone deficiency, and a hypothalamic tumor in a second patient, 8 and thrombocytopenia with absent radii (TAR) syndrome in a third. 17 However, no definite relationships between these disorders and PNH have yet been established. Retinitis pigmentosa and optic atrophy with marked diminution of vision were observed in our patient, but we have not been able to establish a casual relationship between PNH and the ocular manifestations, which have a wellknown hereditary background.…”

“…The spontaneous regression of some lesions has been an exceptional finding in one patient 3 , and systemic disorders in association with PNH have been reported in three patients. The associated findings include chronic myeloid leukemia, hepatosplenomegaly, hypothyroidism, hyperuricemia, and hypocholesterolemia in one patient, 9 precocious puberty, growth hormone deficiency, and a hypothalamic tumor in a second patient, 8 and thrombocytopenia with absent radii (TAR) syndrome in a third 17 . However, no definite relationships between these disorders and PNH have yet been established.…”