53 citations
,
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.
3 citations
,
March 2017 in “Pediatric Dermatology” This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
42 citations
,
September 2000 in “British Journal of Dermatology” This report describes two children with congenital hypotrichosis and found their short hair is due to a shortened anagen phase, with the condition resolving spontaneously during puberty.
23 citations
,
July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.