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Am J Med Genet A 2020 05 26;182(5):1041-1052. Epub 2020 Feb 26.

Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP-sensitive potassium (K ) channels, respectively. It is characterized by congenital hypertrichosis, osteochondrodysplasia, extensive cardiovascular abnormalities and distinctive facial anomalies including a broad nasal bridge, long philtrum, epicanthal folds, and prominent lips. Many genetic syndromes, such as CS, involve facial anomalies that serve as a significant clue in the initial identification of the respective disorder before clinical or molecular diagnosis are undertaken. Read More

Indian J Dermatol Venereol Leprol 2018;84(2):248

Department of Dermatology, Sexually Transmitted Diseases and Leprosy, Government Medical College, University of Kashmir, Srinagar, Jammu and Kashmir, India.

Pediatr Dermatol 2017 Mar;34(2):e77-e79

Our Lady of Lourdes Hospital, Drogheda, County Louth, Ireland.

We report a case of congenital hypertrichosis and FOXN1 duplication. FOXN1 is a member of the forkhead box gene family, located on chromosome 17. Its function includes differentiation of epithelial cells and regulation of keratinocytes, especially hair keratins. Read More

Pediatr Dermatol 2016 Nov 7;33(6):e351-e352. Epub 2016 Sep 7.

Department of Dermatology, Dijon University Hospital, Dijon, France.

We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth syndromes. Read More

Eur J Dermatol 2015 May-Jun;25(3):223-7

Department of Dermatology, Freiburg University Medical Center, Hauptstr. 7, 79104 Freiburg, Germany.

Congenital generalized hypertrichosis terminalis (CGHT) is a heterogenous group of diseases with continuing excessive growth of terminal hair. "Ambras syndrome" was first coined by Baumeister in 1993 to describe a case of nonsyndromic CGHT which was erroneously analogized to the portrait paintings of Petrus Gonzales and his children, exhibited in Ambras Castle near Innsbruck, Austria. This family probably, a syndromic type with abnormal dentition, inherited as an autosomal dominant trait. Read More

An Bras Dermatol 2013 May-Jun;88(3):473-5

Federal University of Bahia, Prof. Edgar Santos Hospital Complex, Salvador, BA, Brazil.

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. Read More

Proc Natl Acad Sci U S A 2013 May 19;110(19):7790-5. Epub 2013 Apr 19.

Departments of Genetics and Development, Columbia University, New York, NY, USA.

X-linked congenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rare condition of hair overgrowth on different body sites. We previously reported linkage in a large Mexican family with X-linked congenital generalized hypertrichosis cosegregating with deafness and with dental and palate anomalies to Xq24-27. Using SNP oligonucleotide microarray analysis and whole-genome sequencing, we identified a 389-kb interchromosomal insertion at an extragenic palindrome site at Xq27. Read More

Pediatr Dermatol 2014 Jul-Aug;31(4):529-30. Epub 2012 Oct 2.

Dermatology Service, Universidad Autónoma de Nuevo León, Hospital Universitario Dr. Jose E. Gonzalez, Monterrey, Mexico.

We report the case of a girl with hypertrichosis lanuginosa congenita treated with diode laser depilation since the age of 9 months. The treatment was well tolerated, and neither general nor local anesthesia was needed. A reduction of approximately 80% of facial and body hair was noted, which improved her condition significantly. Read More

Mymensingh Med J 2012 Jul;21(3):567-9

Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh.

Hypertrichosis is abnormal increase in body hair, when it becomes extensive known as Were Wolf Syndrome. Any part of body can be affected and body hairs are longer and darker. Hairs may be of any type like lanugo, vellous or terminal. Read More

Arch Dermatol 2011 Jun;147(6):746-7

Indian J Dermatol Venereol Leprol 2010 Nov-Dec;76(6):699-700

Department of Dermatology, Venereology and Leprosy, RNT Medical College, Udaipur, Rajasthan, India.

Pediatr Dent 1998 May-Jun;20(3):192-4

Eastman Dental Hospital, London.

J R Soc Med 1996 Jul;89(7):403-8

Department of Rheumatology, University of Lund, Malmö University Hospital, Sweden.

A Burmese family with congenital hypertrichosis lanuginosa had an eventful history in the nineteenth century. The earlier members of this family were employed at the court of Ava, but the later ones spent their lives in show business, being widely exhibited for money in the 1880s. Their extraordinary hairiness attracted much curiosity, and they were photographed several times. Read More

Br J Dermatol 1991 May;124(5):495-7

Department of Dermatology, Hospital for Sick Children, London, U.K.

An infant with congenital hypertrichosis lanuginosa (CHL) and congenital glaucoma is presented. Both conditions are rare and have not been previously reported to occur in association. Read More

Ann Dermatol Venereol 1991 ;118(11):796-8

Service de Dermatologie, CHR Poitiers.

Arch Dis Child 1987 Jun;62(6):623-5

A newborn baby presented with overgrowth of lanugo hair and a precocious tooth. She was shaved infrequently until aged 9 months, when spontaneous loss of body hair began. Pyloric stenosis at 6 weeks was surgically corrected. Read More

Hautarzt 1985 Jul;36(7):423-4

We present the case of a 2-year-old boy with generalized excessive growth of lanugo-like hair which had been developing since the 1st year of his life. A complete endocrine, metabolic and genetic investigation showed no abnormal findings. There was no familial history of hypertrichosis. Read More

Arch Dermatol 1970 Jun;101(6):669-72

East Afr Med J 1964 Jul;41:345-6