August 2024 in “Veterinary Dermatology” Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
18 citations
,
December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
1 citations
,
November 2023 in “Curēus” Early diagnosis and treatment of nail and skin conditions can improve health and appearance.
2 citations
,
April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
37 citations
,
August 2014 in “Journal of experimental botany” A gene in Arabidopsis thaliana, AtPRPL1, affects root hair length but not cell wall composition.
50 citations
,
April 2014 in “Nature Communications” The research identified new skin traits in mice, some linked to human skin conditions.
25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
7 citations
,
September 2011 in “International Journal of Dermatology” The Korean study found that twenty-nail dystrophy mainly affects adults, more often women, and has five distinct types with different clinical progressions.
1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
Shock wave therapy improved muscle function and movement in children with spastic cerebral palsy.
46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
2 citations
,
March 2011 in “International Journal of Dermatology” An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
11 citations
,
November 2005 in “The Journal of Dermatology” A man's crushed thumb caused unusual horizontal nail ridges on all fingers of one hand.
9 citations
,
June 2017 in “Journal of Cutaneous Pathology” People with pemphigus vulgaris and pemphigus foliaceus often have smaller sebaceous glands on their scalp.
April 2024 in “Journal of clinical medicine” Classical PCOS types A and B are most common and linked to higher health risks.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
9 citations
,
October 2014 in “Experimental and Clinical Endocrinology & Diabetes” Knuckle Acanthosis Nigricans is common in Latin American youth and may indicate early insulin resistance, especially in those with normal weight.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
1 citations
,
April 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
10 citations
,
May 1994 in “Journal of Investigative Dermatology” 35 citations
,
September 2004 in “American Journal of Dermatopathology” A rare nail bed cancer was successfully treated with no recurrence after 4 years.
7 citations
,
February 2019 in “Anais Brasileiros de Dermatologia” 47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
2 citations
,
June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
February 2013 in “Journal of the American Academy of Dermatology”