research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
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research Autoamputation in a 45-Year-Old Female with Systemic Lupus Erythematosus Overlap with Systemic Sclerosis: A Case Report
Early recognition and tailored treatment are crucial for managing overlapping systemic lupus erythematosus and systemic sclerosis.
research A new familial presentation of dissecting cellulitis: The genetic implications on scarring alopecias
Dissecting cellulitis may have genetic links and can cause permanent hair loss.
research Clouston syndrome associated with eccrine syringofibroadenoma
Clouston Syndrome can be linked to rare sweat gland tumors.
research Erosive Pustular Dermatosis: Delving into Etiopathogenesis and Management
Topical corticosteroids are the main treatment for Erosive Pustular Dermatosis, but recurrence is common after stopping treatment.
research An Adult With Hair Loss! a Rare Case of Non-Classical 3β Hydroxysteroid Dehydrogenase (3β HSD) Deficiency
A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
research Spiny Keratoderma
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Association between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population
Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.