February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
21 citations
,
January 2005 in “Pediatric Dermatology” An 8-year-old girl with vitiligo developed extra hair growth on her knee after using tacrolimus ointment.
4 citations
,
July 2005 in “International Journal of Dermatology” Topical PUVA and tacrolimus ointment can effectively and safely treat infant alopecia universalis.
1 citations
,
June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
July 2024 in “LA CIENCIA AL SERVICIO DE LA SALUD Y NUTRICIÓN” The condition is harmless, doesn't worsen, and needs no invasive treatment.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
1 citations
,
August 2010 in “Optometry and Vision Science” A 4-year-old boy's vision and hair loss were likely caused by inflammation.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
20 citations
,
October 2005 in “Archives of Dermatological Research”
93 citations
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October 2006 in “The International Journal of Biochemistry & Cell Biology” Melanocytes are crucial for skin pigmentation and can affect conditions like melanoma, vitiligo, and albinism, as well as hair color and hearing.
July 2024 in “Clinical Case Reports” Recognizing rare hair loss patterns in young females can improve understanding and treatment.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
A man's scalp hair loss was due to a combined melanocytic nevus and alopecia areata, suggesting a possible link between the two conditions.
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Congenital alopecia areata may have genetic links and topical corticosteroids are an effective treatment.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
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.
1 citations
,
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Melanocyte-associated antigens may play a key role in alopecia areata and could be targets for new treatments.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
5 citations
,
August 2012 in “Archives of Dermatology” The immune system can cause permanent skin and hair whitening by attacking pigment cells.
1 citations
,
December 2019 in “American journal of ophthalmology. Case reports” A rare skin condition caused droopy and outward-turning eyelids in a patient.
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.
February 2026 in “Journal of the American Academy of Dermatology” Ophiasis mainly affects females, lasts longer, and has lower regrowth rates, with a new classification system helping predict treatment response.
7 citations
,
November 2011 in “Skin Research and Technology” The study found a specific pattern of uneven melanin distribution on balding scalps that could help understand skin diseases caused by light exposure.
17 citations
,
March 1994 in “Pediatric Dermatology” Vitiligo and alopecia areata may share common causes.
7 citations
,
January 2012 in “International Journal of Trichology” Two siblings both had a rare case of alopecia areata at the same time.