research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
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990-1000 / 1000+ resultsresearch In vivo reflectance confocal microscopic findings in a case of trichofolliculoma
Reflectance confocal microscopy may help diagnose trichofolliculoma by showing specific skin features.
research Pathological Insights into the Limitations of Clinical and Dermoscopic Evaluations in Monitoring Sonidegib Treatment Response for Locally Advanced Basal Cell Carcinoma: A Real-World Study
Sonidegib is effective and safe for treating advanced basal cell carcinoma, but biopsies are needed to confirm tumor clearance.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Trichilemmal carcinoma metastatic to parotid gland: First report of fine needle aspiration cytology features
Trichilemmal carcinoma can spread to the parotid gland and be diagnosed using fine-needle aspiration cytology.
research Carotid Body Tumor: Review of the Literature and Report of a Case With a Rare Sensorineural Symptomatology
A man's rare tumor caused unusual nerve-related symptoms that improved after surgery.
research Scalp Melanoma: A High-Risk Subset of Cutaneous Head and Neck Melanomas with Distinctive Clinicopathological Features
Scalp melanomas are more dangerous and likely to recur or cause death than other head and neck melanomas.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Pituitary-dependent hyperadrenocorticism in a terrier dog: A case report
The terrier dog with pituitary-dependent hyperadrenocorticism was successfully treated with mitotane.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.