21 results match your criteria: "Congenital Hypertrichosis Lanuginosa"
Isolated congenital nevoid linear hypertrichosis in an infant: a case report.
Int J Dermatol
February 2023
Department of Dermatology, University of Illinois College of Medicine at Chicago, Chicago, IL, USA.
Three-dimensional facial morphology in Cantú syndrome.
Am J Med Genet A
May 2020
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.
View Article and Find Full Text PDFCongenital hypertrichosis lanuginosa.
Indian J Dermatol Venereol Leprol
November 2018
Department of Dermatology, Sexually Transmitted Diseases and Leprosy, Government Medical College, University of Kashmir, Srinagar, Jammu and Kashmir, India.
FOXN1 Duplication and Congenital Hypertrichosis.
Pediatr Dermatol
March 2017
Our Lady of Lourdes Hospital, Drogheda, County Louth, Ireland.
Article Synopsis
- - The case involves congenital hypertrichosis linked to a duplication of the FOXN1 gene, which is located on chromosome 17 and crucial for hair growth regulation.
- - FOXN1 is part of the forkhead box gene family, playing an important role in the differentiation of epithelial cells and specifically keratinocytes related to hair.
- - This report is significant as it is the first documented instance of FOXN1 duplication being associated with congenital hypertrichosis in scientific literature.
Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.
Pediatr Dermatol
November 2016
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.
View Article and Find Full Text PDFCongenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term "Ambras syndrome".
Eur J Dermatol
May 2016
Department of Dermatology, Freiburg University Medical Center, Hauptstr. 7, 79104 Freiburg, Germany.
Article Synopsis
- Congenital generalized hypertrichosis terminalis (CGHT) refers to a group of conditions characterized by excessive growth of terminal hair and includes various types, such as the non-syndromic "Ambras syndrome."
- Originally named by Baumeister in 1993, "Ambras syndrome" inaccurately drew parallels with 16th-century portraits of a family affected by hair growth, but this family likely had a different, syndromic condition involving dental issues.
- The misapplication of the term "Ambras syndrome" to diverse forms of CGHT, including some mistaken for hypertrichosis lanuginosa, suggests that it lacks specificity and should be discarded for clarity in scientific terminology.
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An Bras Dermatol
June 2014
Federal University of Bahia, Prof. Edgar Santos Hospital Complex, Salvador, BA, Brazil.
Article Synopsis
- Congenital Hypertrichosis Lanugionsa is a rare genetic disorder inherited in an autosomal dominant pattern, with under 50 documented cases.
- This condition causes excessive lanugo hair growth over the body, except on mucous membranes, palms, and soles.
- The report highlights a case of a 2-year-old black female patient exhibiting classic symptoms without any other congenital abnormalities.
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.
Proc Natl Acad Sci U S A
May 2013
Departments of Genetics and Development, Columbia University, New York, NY, USA.
Article Synopsis
- X-linked congenital generalized hypertrichosis is a rare condition characterized by excessive hair growth on various body parts, linked to other issues like deafness and dental anomalies in a Mexican family.
- Recent genetic analysis identified a 389-kb insertion at Xq27.1 that is associated with this condition.
- The study also indicated that reduced levels of the FGF13 gene may play a significant role in hair follicle development and the hair growth cycle in those affected.
Hypertrichosis lanuginosa congenita treated with diode laser epilation during infancy.
Pediatr Dermatol
May 2015
Dermatology Service, Universidad Autónoma de Nuevo León, Hospital Universitario Dr. Jose E. Gonzalez, Monterrey, Mexico.
Article Synopsis
- A case study of a girl with hypertrichosis lanuginosa congenita is presented, who started diode laser depilation treatment at 9 months old.
- The laser treatment was well-tolerated, requiring no anesthesia.
- After treatment, there was about an 80% reduction in facial and body hair, resulting in a significant improvement in her condition.
Congenital hypertrichosis (Were Wolf Syndrome): a case report.
Mymensingh Med J
July 2012
Department of Paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh.
Article Synopsis
- Hypertrichosis is an abnormal increase in body hair, with severe cases known as Were Wolf Syndrome, affecting hair on any part of the body and resulting in longer and darker hairs.
- The condition can be congenital or acquired, as seen in a case of an 8-year-old boy diagnosed with Were Wolf Syndrome after ruling out other causes of his excessive body hair.
- The boy had developmental delays and epilepsy, and he received treatment that included developmental stimulation and anti-epileptic medication before being discharged with proper counseling.
Congenital hypertrichosis lanuginosa.
Indian J Dermatol Venereol Leprol
October 2011
Department of Dermatology, Venereology and Leprosy, RNT Medical College, Udaipur, Rajasthan, India.
The hairy family of Burma: a four generation pedigree of congenital hypertrichosis lanuginosa.
J R Soc Med
July 1996
Department of Rheumatology, University of Lund, Malmö University Hospital, Sweden.
Article Synopsis
- A Burmese family with congenital hypertrichosis lanuginosa gained attention in the 19th century, transitioning from royal court roles to becoming a popular sideshow attraction in the 1880s due to their unusual hairiness.
- They are notable for being the only documented case of a four-generation lineage exhibiting this genetic condition, which is passed down in an autosomal dominant inheritance pattern.
- Additionally, there is evidence that, along with their excessive hair growth, family members exhibited dental deficiencies during that time.
Congenital hypertrichosis lanuginosa and congenital glaucoma.
Br J Dermatol
May 1991
Department of Dermatology, Hospital for Sick Children, London, U.K.
Article Synopsis
- An infant has been diagnosed with congenital hypertrichosis lanuginosa (CHL), a condition characterized by excessive hair growth.
- The same infant also has congenital glaucoma, a rare eye condition that affects the drainage of fluid in the eye and can lead to vision problems.
- This case is notable because these two rare conditions have not been documented together before in medical literature.
[Diffuse hamartoma of the arrector muscles and congenital hypertrichosis lanuginosa].
Ann Dermatol Venereol
March 1992
Service de Dermatologie, CHR Poitiers.
Article Synopsis
- A newborn exhibited excessive lanugo hair growth and had an early-emerging tooth.
- The baby experienced infrequent hair shaving until 9 months, after which she began to lose body hair on her own.
- The child had pyloric stenosis that was surgically repaired at 6 weeks, and there was a family background of hypertrichosis and dental issues.
Article Synopsis
- - A 2-year-old boy has been experiencing excessive growth of lanugo-like hair since he was one year old.
- - Comprehensive tests including endocrine, metabolic, and genetic evaluations revealed no abnormalities.
- - There is no family history of hypertrichosis, a condition characterized by excessive hair growth.