7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
11 citations
,
May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
24 citations
,
January 1969 in “Archives of Dermatological Research” Hair malformations may occur due to timing issues in hair development.
9 citations
,
March 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Ectodysplasin signaling is crucial for skin appendage development, requiring specific doses and durations.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
4 citations
,
May 1994 in “Neurology” The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
18 citations
,
January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
58 citations
,
November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
11 citations
,
January 2010 in “Journal of oral and maxillofacial surgery”
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
23 citations
,
December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
10 citations
,
October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
18 citations
,
December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
7 citations
,
November 1997 in “Pediatric Dermatology” Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
6 citations
,
January 1997 in “Pediatric dermatology” The case suggests a possible link between severe acne and certain bone deformities.
35 citations
,
April 1998 in “PubMed” Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
3 citations
,
December 2013 in “American Journal of Dermatopathology” A rare skin growth in a baby was successfully removed without coming back.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
33 citations
,
December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.