60 citations
,
August 2009 in “Journal of the American Academy of Dermatology” The term "porokeratotic adnexal ostial nevus" is proposed to unify overlapping skin conditions involving eccrine and hair follicles.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
5 citations
,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
April 2014 in “Jurnal Biomedik : JBM” An 8-year-old girl had nail and hair issues that improved without specific treatment, but fungal nail infection was hard to cure.
6 citations
,
January 1997 in “Pediatric dermatology” The case suggests a possible link between severe acne and certain bone deformities.
April 2011 in “www.virtualization.info” Early diagnosis of trachyonychia improves treatment and reduces psychological and cosmetic issues.
Onychomatricoma is a unique nail tumor, not related to other hair-related tumors.
49 citations
,
January 2013 in “Dermatologic Therapy” Newborns with ichthyosis need specific care based on their skin type.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
35 citations
,
September 2006 in “American Journal Of Pathology” Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
15 citations
,
April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
2 citations
,
October 1931 in “Archives of Dermatology and Syphilology” A rare scalp infection in a child developed into a kerion with additional skin symptoms.
22 citations
,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
May 2020 in “JOJ Dermatology & Cosmetics” A rare skin condition usually on the face was found on a man's heel.
3 citations
,
May 2017 in “BMJ Case Reports” A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
232 citations
,
July 1995 in “Nature Genetics”
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
April 2019 in “Journal of Investigative Dermatology” Calcium signals and SHH guide the direction of feather growth in chicken skin.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
65 citations
,
June 2003 in “EMBO journal” Noggin overexpression delays eyelid opening by affecting cell death and skin cell development.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
13 citations
,
June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
January 2005 in “Journal of Cutaneous Pathology” A new benign nail tumor called onychoblastoma was identified.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
35 citations
,
September 2004 in “American Journal of Dermatopathology” A rare nail bed cancer was successfully treated with no recurrence after 4 years.
5 citations
,
December 2018 in “Frontiers in Endocrinology” Differences in androgen receptor expression and tissue properties may lead to higher cryptorchidism risk in certain rats.
10 citations
,
July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.