253 citations
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March 1994 in “Developmental dynamics” Apoptosis is essential for human skin development and forming a functional epidermis.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
20 citations
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January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
4 citations
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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.
1 citations
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September 2021 in “Rossijskij žurnal kožnyh i veneričeskih boleznej” Osteoma cutis is a rare, benign skin condition where bone forms in the skin.
53 citations
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August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Excessive body hair can signal complex health issues.
August 2023 in “Dermatology Reports” Acne not improved by usual treatments may indicate a genetic disorder.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
An infant with a zinc deficiency skin disorder improved with zinc treatment.
4 citations
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January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
April 1955 in “Archives of pediatrics & adolescent medicine” Children's skin diseases need special care and treatment.
17 citations
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July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” The four patients have a unique type of ichthyosis affecting hair follicles.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
1 citations
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February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
9 citations
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June 2020 in “JAAD Case Reports” Dissecting cellulitis may have genetic links and can cause permanent hair loss.
5 citations
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May 2021 in “BMC surgery” A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
5 citations
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August 2012 in “Archives of Dermatology” The immune system can cause permanent skin and hair whitening by attacking pigment cells.
3 citations
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July 2004 in “SKINmed/Skinmed” A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
January 2022 in “Indian dermatology online journal” Pigmented papules on the ear can be a rare skin condition called cutaneous amyloidosis, treatable with topical tretinoin.
January 2025 in “Indian Journal of Paediatric Dermatology” Biopsy is crucial to correctly diagnose granuloma annulare, which can mimic other conditions like alopecia mucinosa.
Trichoscopic examination is crucial for diagnosing congenital triangular alopecia.
January 2023 in “Indian dermatology online journal” Leukemia can sometimes appear as unusual skin issues in children.
March 2021 in “Revista da Associação Médica Brasileira”
27 citations
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October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
3 citations
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September 2021 in “Experimental and Therapeutic Medicine” Early diagnosis of Keratosis pilaris atrophicans faciei can lead to better, personalized treatments.
September 2024 in “Dermatologica Sinica” Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.