53 citations
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August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This review discusses congenital generalized hypertrichosis, focusing on its association with complex malformation syndromes, but it presents no new research findings.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” This report describes a rare case of congenital generalized hypertrichosis terminalis in a six-year-old boy with gingival hyperplasia, a coarse face, congenital hydronephrosis, and a heterozygous deletion on chromosome 17q12.
1 citations
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January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
6 citations
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June 1993 in “Veterinary Dermatology” This case report describes a female Rottweiler with generalized congenital hypotrichosis, where most skin biopsies showed a complete absence of follicular development, marking only the second documented case of this genodermatosis in female dogs.