Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Anagen effluvium due to chemotherapy is usually reversible with complete hair regrowth. However, there is increased evidence that certain chemotherapy regimens can cause dose-dependent permanent alopecia. The histological features of this type of alopecia and the mechanisms of its origin are not known yet. We discuss the histological features of 10 cases of permanent alopecia after systematic chemotherapy with taxanes (docetaxel) for breast cancer (6 patients), busulfan for acute myelogenous leukemia (3 patients), and cisplatin and etoposide for lung cancer (1 patient). All patients had moderate to very severe hair thinning, which in 4 cases was more accentuated on androgen-dependent scalp regions. Patients complained that scalp hair did not grow longer than 10 cm and showed altered texture. Paired scalp biopsies from the affected scalp areas were obtained and evaluated in serial horizontal and vertical sections. The histology of all specimens was characterized by a nonscarring pattern with a preserved number of follicular units and lack of fibrosis. The hair count revealed decreased number of terminal hairs, increased telogen hairs, and increased miniaturized vellus-like hairs with a terminal to vellus and anagen to telogen ratios of 1:1 and 3.6:1, respectively. There was increased number of fibrous streamers (stelae) in both reticular dermis and subcutis. Arao-Perkins bodies were found in the subcutaneous portions of the streamers. The histological findings of permanent alopecia after chemotherapy are those of a nonscarring alopecia similar to androgenetic alopecia. Dermatopathologists should be aware of this condition as the absence of fibrosis and the presence of miniaturized hairs may be considered as features consistent with a diagnosis of androgenetic alopecia. Hence, these cases could easily be misdiagnosed in the absence of a good clinicopathological correlation.
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PMID:Permanent alopecia after systemic chemotherapy: a clinicopathological study of 10 cases. 2143 May 4

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients frequently present failure to thrive, susceptibility to infections and short stature. A persistent or intermittent neutropenia occurs in 88-100% of patients. Bone marrow biopsy usually reveals a hypoplastic specimen with varying degrees of hypoplasia and fat infiltration. Some patients may develop myeloblastic syndrome and acute myeloblastic leukemia. The genetic defect in SDS has been identified in 2002. The osteoporosis is increased in patients with SDS, and also, bone malformations are included among the primary characteristics of the syndrome. The severity and location change with age and sexes. The typical characteristics include the following: secondary ossification centers delayed appearance, metaphysis enlargement and irregularity (very common in childhood, particularly in coastal and femur), growth cartilage progressive thinning and irregularity (possibly asymmetric growth), generalized osteopenia with cortical thinning. We describe a clinical case regarding an SDS patient with severe bone abnormalities and treated surgically for corrective osteotomy. The persistent or intermittent neutropenia that characterized this disease and the consequent risk of infection is a contraindication for short stature correction and limbs lengthening.
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PMID:Shwachman-Diamond syndrome. 2220 Oct 42