Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

Abstract

SUMMARY 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 the four other published cases, two were sporadic and of normal height. The other two were sibs with short stature and their parents were heterozygous for the Weill-Marchesani syndrome. We were unable to ascertain whether hypertrichosis cubiti cosegregates with the same type of skeletal dysplasia or elucidate the type of genetic transmissior of hypertrichosis cubiti alone.Hypertrichosis cubiti was first reported by Beighton,l who described a localised hypertrichosis confined to the extensor surface of the elbow regions in two sibs from an inbred Amish family. They had normal development and clinical abnormalities were confined to short stature and foreshortened, but not dysplastic, nails. Their parents were short and both were heterozygous for the Weill-Marchesani syndrome. The short stature of the affected sibs was not investigated. Subsequently, Rudolph2 and Andrev and Stansky3 each reported a sporadic case of hypertrichosis cubiti without other clinical abnormalities. Sighting of a case in the local parish A church congregation was reported by Warner4 and a few cases were apparently observed, but not published.3We have had the opportunity to examine four previously unreported patients with hypertrichosis cubiti, all of whom were referred for investigation of short stature. Case reportsTwo males and two females presented with a history of excessive hair growth over the lateral aspects of the lower third of the upper arm and upper third of the forearm observed soon after birth. In early childhood the hair became coarser, sometimes

Hypertrichosis cubiti, a case report and literature review

“…Some links to syndromes such as the Weill-Marchesani syndrome [1], Wiedemann-Steiner Syndrome [16], or Floating-Harbor syndrome [9] have been suggested, but are inconclusive. A number of reports link hypertrichosis cubiti to short stature and/or developmental delay [1,2,8,9,11,12,[15][16][17][18][19], but this so far has been reported only in cases which were thought to have a possible link to a syndrome [1,9,16,20]. In the sporadic cases, endocrine and chromosomal studies have been normal [13,[21][22][23][24] and are not linked to mental or physical abnormalities.…”

Sporadic nonsyndromal anterior cervical hypertrichosis: case report and review of the literature

“…Hypertrichosis cubiti can either manifest as an isolated clinical finding 5,6 or be associated with other abnormalities, such as short stature, facial dysmorphy, or developmental disorders. [7][8][9] Sometimes, CLH is observed in skin regions overlying the spinal cord. Examples are lumbosacral hypertrichosis and posterior cervical hypertrichosis.…”

Correspondence

“…It has been widely used compared with similar drugs containing 5-fluorouracil (5-FU), because of its long active half-life and easy parenteral administration by the oral route. 1,2 The cutaneous side reactions of 5-FU medication have been reported, including photosensitivity, alopecia, hyperpigmentation, several nail changes (diffuse melanosis, transverse melanotic striations, brittleness, and cracking), 3,4 pigmentation along the course of veins, 5 and palmoplantar keratoderma with acral erythema. 6 The cutaneous side reactions induced by tegafur (1-(2-tetrahydrofuryl)-5-fluorouracil) are almost identical to those of 5-FU, such as photosensitivity, 7 acral and mucosal hyperpigmentation, longitudinal melanonychia, palmoplantar hyperkeratosis, 8 and palmoplantar keratoderma secondary to chronic acral erythema 9 (Table 1).…”

“…1 The disorder has been linked to stature growth retardation and facial asymmetry. 2,3 We have recently observed four cases of hypertrichosis cubiti not associated with any other specific disease.…”