April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
December 2025 in “Cureus” Early diagnosis and treatment of calcinosis cutis in lupus patients is crucial due to its rarity and potential complications.
122 citations
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June 2002 in “Genes & Development” Keratin 17 is crucial for early hair strength and cell survival.
April 2021 in “Authorea (Authorea)” A 20-year-old woman had stable Progressive Hemifacial Atrophy and Vitiligo after treatment, suggesting a possible link between the conditions.
16 citations
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July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
16 citations
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March 2017 in “Bone Marrow Transplantation” Some children who had stem cell transplants developed permanent hair loss, especially when treated with a drug called busulphan.
October 2023 in “Pediatric blood & cancer” Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.
1 citations
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November 2014 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” 1 citations
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August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
3 citations
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December 2013 in “American Journal of Dermatopathology” A rare skin growth in a baby was successfully removed without coming back.
5 citations
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January 1970 in “Journal of Nepal Paediatric Society” Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
May 2024 in “Indian journal of child health” A 7-year-old girl had a non-painful skin growth at her belly button, which was removed and identified as a keratinous cyst.
April 1906 in “The American Journal of the Medical Sciences” Keratosis Pilaris Atrophicans causes skin scarring and might be treated with a new synthetic retinoid.
February 2018 in “BMJ case reports” An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
14 citations
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April 1976 in “Journal of Cutaneous Pathology” A calcified nodule on a boy's face came from hair follicles and expelled calcium through the skin.
January 2017 in “Turkiye Klinikleri Journal of Dermatology” A 9-month-old baby had a rare, persistent ring-shaped hair loss condition.
1 citations
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July 2021 in “Curēus” A child had a rare case of scarring hair loss with skin disease, which is hard to treat and stressful.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
134 citations
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January 2011 in “Development” Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
June 2018 in “Journal of the American Veterinary Medical Association” Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
June 2023 in “International Journal of Dermatology” Congenital alopecia areata may be genetic, and topical corticosteroids often help regrow hair.
9 citations
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December 1987 in “Archives of Dermatology” Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
30 citations
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May 2008 in “International Journal of Dermatology” Lipedematous alopecia causes permanent hair loss due to increased scalp fat.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
3 citations
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December 2003 in “Archives of Pathology & Laboratory Medicine” The nodule was a benign cutaneous lymphadenoma, not cancer, and was successfully removed.
July 2023 in “The Keio Journal of Medicine” Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.