Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color

Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder

“…The presence of skin erosions, especially on the scalp, is often associated with AEC syndrome, but is only documented in 45% (15/33) of all clinically published cases with a confirmed TP63 gene mutation. Moreover, scalp dermatitis and hair dysplasia may lead to alopecia in both disorders – 18% (6/33) of AEC cases and 36% (4/11) of RHS cases 3,21 . In fact, several individuals have been diagnosed with either RHS or AEC syndrome based on clinical features despite harbouring the same genetic mutation.…”

Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia

“…6-10 The described hair disorders include partial or total hair loss, chronic dermatitis of the scalp with the formation of crusts (in Rapp-Hodgkin syndrome), heterogeneity of thick stems, trichorrhexis nodosa, pili torti and pili canaliculi, or trichothiodystrophy. [11][12][13][14][15][16] Trichoscopy (videodermoscopy of hair and scalp) is a new method that allows viewing hair shafts in vivo in many-fold magnification without the need of pulling hair. 17,18 We showed that hypotrichosis in this group of patients is most commonly due to predominance of follicular units with single hair (usually hair grows in groups of 2 or 3 hair in 1 follicular unit, and the percentage of pilosebaceous units with 1 hair is usually less than 10%).…”

“…[6][7][8][9][10] Described hair disorders include the partial or total hair loss, chronic dermatitis of the scalp with the formation of crusts (Rapp-Hodgkin syndrome), trichorrhexis nodosa, pili torti, pili canaliculi, or trichothiodystrophy. [11][12][13][14][15][16] In recent years, physicians have utilized an additional diagnostic tool for hair and scalp disorders-trichoscopy (hair and scalp dermoscopy), 17-21 a rapid in-office technique, which has become a standard procedure in differential diagnosis of hair loss. [20][21][22] There are only few reports addressing trichoscopy features in hair genetic disorders and none in the group of patients with ED.…”

Hair Disorders

“…These all are characterized by hypohidrosis and cleft lip/palate and have been designated by the other consistent abnormalites present (Rapp -Hodgkin (none), EEC3 (ectrodactyly) and AEC (ankyloblepharon)) [17,167] .…”