1 citations
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July 2018 in “Journal of The American Academy of Dermatology” Sebaceous glands are often preserved and PPARy expression is constant in some cases of Central Centrifugal Cicatricial Alopecia.
June 2018 in “Dermatologic Surgery”
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
11 citations
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May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
30 citations
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May 2005 in “Pediatric dermatology” Some families have a genetic condition where they are born with irregular scalp defects.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
5 citations
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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.
July 2024 in “LA CIENCIA AL SERVICIO DE LA SALUD Y NUTRICIÓN” The condition is harmless, doesn't worsen, and needs no invasive treatment.
September 2018 in “Fertility and Sterility” High levels of testosterone and anti-Müllerian hormone before pregnancy are linked to a higher risk of newborns needing intensive care.
12 citations
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January 1991 in “Acta Dermato Venereologica” Basal cell epithelioma-like changes are most similar to normal basal cells.
February 2013 in “Journal of The American Academy of Dermatology” A boy with a rare birthmark called verrucous hemangioma needed careful timing for surgery due to its size and depth.
57 citations
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March 2011 in “Pediatric Dermatology” Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.
January 2006 in “FarFar - Pharmacy Repository” Dermocosmetic products can be effective and safe for treating pregnancy-related skin changes.
January 2020 in “JAAD case reports” Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.
4 citations
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April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
December 2021 in “Pathologica” Trichogerminoma is a rare, benign skin tumor from hair cells, with a small risk of becoming cancerous.
20 citations
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October 2001 in “British Journal of Ophthalmology” A patient with congenital erythropoietic porphyria showed eye issues due to porphyrin buildup.
75 citations
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September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
16 citations
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March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
1 citations
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March 2019 in “KnE life sciences” HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
2 citations
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January 2022 in “JAAD Case Reports” The rash resolved after stopping ponatinib.
2 citations
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January 2016 in “Gynecological Endocrinology” A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
37 citations
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December 2001 in “Journal of the American Academy of Dermatology” Thalidomide significantly improved hair regrowth in a woman with lichen planopilaris.
76 citations
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October 2000 in “Journal of the American Academy of Dermatology” Follicular mucinosis can be an early sign of aggressive mycosis fungoides.
May 2014 in “Clinical and Experimental Dermatology” A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
February 2026 in “Pediatrics in Review” A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.