3 citations
,
December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
July 2000 in “The Pediatric Infectious Disease Journal” Tinea faciei should be considered in neonatal vesicular lesions and confirmed with KOH examination and culture.
2 citations
,
March 2017 in “Sultan Qaboos University medical journal” An infant had two different natural hair colors on the scalp with no health issues.
1 citations
,
November 2003 in “Annals of saudi medicine/Annals of Saudi medicine” A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
4 citations
,
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Papular acantholytic dyskeratosis of the vulva is a rare, benign skin condition that can be managed conservatively.
9 citations
,
October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
August 2024 in “Postgraduate Medical Journal” A rare skin reaction from cancer treatment was successfully managed with topical treatments and antihistamines.
22 citations
,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
2 citations
,
April 2018 in “International Journal of Research in Dermatology” Linear skin conditions are rare, more common in females, and often misdiagnosed without tissue analysis.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
5 citations
,
March 1981 in “PubMed” A girl grew extra hair in areas where she had insect bites.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
3 citations
,
June 2023 in “Cureus” Pilomatricomas should be considered to avoid misdiagnosis in children with unusual skin tumors.
December 2021 in “Pediatrics in review” Recognizing skin symptoms in children can help diagnose and manage serious diseases early.
65 citations
,
July 1984 in “Journal of Investigative Dermatology” 7 citations
,
January 2013 in “Ophthalmic plastic and reconstructive surgery” A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
17 citations
,
January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
22 citations
,
January 1999 in “Dermatology” The condition might be caused by genetic changes after birth.
3 citations
,
March 2021 in “Cureus” A rare combination of halo nevi, nonsegmental vitiligo, and early gray hair can occur together.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
7 citations
,
May 1988 in “International Journal of Dermatology” The patient's hair has unique structural differences with alternating bright and dark bands.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
March 2014 in “Pediatric Clinics of North America” The document discusses how to identify and manage common skin conditions in children.
44 citations
,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
2 citations
,
January 2018 The document reports the 19th global case of a rare skin condition in a patient from Colombia.