April 2023 in “Journal of Investigative Dermatology” Ectomesenchyme is a key source of skin stem cells.
124 citations
,
January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
33 citations
,
September 2008 in “Biochemical and Biophysical Research Communications” Hair follicles can be used to easily create neurons and glial cells for potential nerve repair.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
91 citations
,
March 2011 in “Stem Cell Reviews and Reports” Human epidermal neural crest stem cells can become bone and skin pigment cells, making them useful for therapies.
10 citations
,
December 1990 in “Archives of Dermatological Research”
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
6 citations
,
January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
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.
March 2026 in “Scientific Journal” Early recognition and evaluation of nevus sebaceus are crucial to detect and manage potential cancerous changes.
136 citations
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March 1998 in “Oncogene” Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
September 2024 in “Dermatologica Sinica” Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
34 citations
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July 2013 in “Clinical Cosmetic and Investigational Dermatology” Erosive pustular dermatosis is a rare skin disease that's hard to treat and affects the scalp or legs.
August 2019 in “Anais Brasileiros de Dermatologia” 31 citations
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December 2022 in “Cold Spring Harbor Perspectives in Biology” Understanding cell transitions can lead to better wound healing treatments.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
7 citations
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November 1997 in “Pediatric Dermatology” Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
11 citations
,
March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
5 citations
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May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
48 citations
,
March 1993 in “The Laryngoscope” Cholesteatoma shows abnormal and increased EGF receptor expression, indicating its rapid growth.
41 citations
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December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
January 2026 in “Acta Dermato Venereologica” Dupilumab effectively treats severe skin issues in a rare genetic disorder.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.