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Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency

research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency

13 citations , September 2011 in “Archives of dermatology”

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

79 citations , March 2005 in “Journal of Medical Genetics”

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

research De novo mutations in monilethrix

26 citations , December 2003 in “Experimental Dermatology”

Specific keratin gene mutations can cause monilethrix.

RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development

research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development

5 citations , July 2022 in “Orphanet journal of rare diseases”

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy

26 citations , August 2009 in “Journal of Pediatric Gastroenterology and Nutrition”

Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.

research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations

15 citations , April 2007 in “Journal of child neurology”

An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.

Resolution of Plantar Hyperkeratosis of Pachyonychia Congenita During Chemotherapy for Ewing Sarcoma

research Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma

2 citations , August 2013 in “British Journal of Dermatology”

Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.

research Central Diabetes Insipidus and Hypothalamic Type of Hypopituitarism Associated with Atypical Location of Rathke's Cleft Cyst

3 citations , January 2012 in “Internal Medicine”

A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.

research Role of vitamin D receptor in the epidermal function and hair follicle homeostasis.

November 2016 in “The Molecular Biology Society of Japan”

research Vitamin D and calcium regulation of epidermal wound healing

86 citations , August 2015 in “The Journal of Steroid Biochemistry and Molecular Biology”

Vitamin D and calcium are essential for effective wound healing and hair growth.

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