November 2019 in “Harper's Textbook of Pediatric Dermatology” Children with metabolic syndrome often have skin problems like dark patches, skin tags, stretch marks, infections, acne, and psoriasis, which are linked to obesity and insulin resistance.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
11 citations
,
July 2012 in “Current Opinion in Pediatrics” Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
12 citations
,
April 2004 in “PubMed” A rare skin condition in a baby showed unusual fat and hair follicle changes.
December 2025 in “Anatomy (International Journal of Experimental and Clinical Anatomy)” Palmaris longus muscle absence is uncommon and not linked to gender, hand side, or finger ratio.
November 2024 in “NeoReviews” An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
21 citations
,
January 2010 in “International journal of trichology” Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.
9 citations
,
December 1987 in “Archives of Dermatology” Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
13 citations
,
October 2000 in “International Journal of Dermatology” A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
18 citations
,
January 2002 in “Pediatric Dermatology” A rare skin condition in children can look like other diseases.
13 citations
,
July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
April 2021 in “Elsevier eBooks” The document's conclusion cannot be provided because the document is not accessible or understandable.
12 citations
,
September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
5 citations
,
January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
65 citations
,
March 2018 in “Journal of Dermatological Science” Skin problems can be caused or worsened by physical forces and pressure on the skin.
36 citations
,
March 2011 in “Nature Communications” Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
May 2020 in “International journal of dermatology and venereology” Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
3 citations
,
November 2024 in “Pediatric Dermatology” Selumetinib causes fewer and less severe skin issues in children than binimetinib.
65 citations
,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
4 citations
,
August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
2 citations
,
December 2008 in “Clinical and Experimental Dermatology” A small forehead lesion led to the discovery of a significant brain arteriovenous malformation in a young girl.