Hemophagocytic lymphohistiocytosis is a life-threatening condition of severe hyperinflammation that results from an uncontrolled proliferation of activated lymphocytes and histiocytes secreting high amounts of inflammatory cytokines. The immediate treatment strategies include immune suppressive therapy such as corticosteriod, etaposide and cyclosporin A. Herein, we present a 13- month-old infan...

We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the familial cases were non-specific and biochemical investigations were normal. Of th...

Hypertrichosis is the excessive hair growth in any area of the skin surface. Acquired localized hypertrichosis may be secondary to multiple causes and there is a secondary form due to several drugs, which is usually reversible with discontinuation of the causative agent. Rivastigmine is a reversible and competitive inhibitor of acetylcholinesterase and butyrylcholinesterase used for symptomatic...

Hereditary hypertrichoses are a group of hair overgrowth syndromes that are extremely rare in humans. We have previously demonstrated that a position effect on TRPS1 is associated with hypertrichosis in humans and mice. To gain insight into the functional role of Trps1, we analyzed the late morphogenesis vibrissae phenotype of Trps1(Δgt) mutant mice, which is characterized by follicle degenerat...

Becker's nevus is a relatively common cutaneous hamartoma, but is often overlooked or misdiagnosed. This nevus usually begins during the second decade of life as a circumscribed, hyperpigmented patch with irregular outline that gradually enlarges with associated hypertrichosis, developing several years later. The purpose of this study was to determine the prevalence of lesional hypertrichosis a...

Germline mutations in the SLC29A3 gene result in a range of recessive, clinically related syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, Faisalabad histiocytosis, and sinus histiocytosis with massive lymphadenopathy. The main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabetes, short stature, ...

There is wide variation in the normal pattern of hair growth. Hypertrichosis, which can be defined as excessive growth of hair compared with that in other subjects of the same age, sex, and race, must be distinguished from hirsutism, a term restricted to an androgen dependent hair pattern that is characterised by excessive hair growth on the upper lip, chin, chest, linea alba, thighs, and axill...