research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
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720-750 / 1000+ resultsresearch Trichoscopic findings in folliculotropic mycosis fungoides: case report
Trichoscopy can help diagnose and decide when to biopsy folliculotropic mycosis fungoides.
research Trichofolliculoma: a rare variant of hair follicle hamartoma
Trichofolliculoma is a rare skin bump on the face or scalp.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD
A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Trichorrhexis nodosa. Clinical and investigative studies
Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin
Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research Cystic panfolliculoma of the conchal bowl
Cystic panfolliculoma is a rare, harmless tumor that can be confused with other skin tumors.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Dercum Disease: Exploratory Therapeutic Approaches in the Absence of Standardized Medical Treatment—A Single Center Case Series
Individualized treatments may help manage Dercum's disease symptoms.
research Trichothiodystrophy: an ultrastructural study of the hair follicle
Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
research Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses
Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
research A Case of Idiopathic Twenty-Nail Dystrophy
A 10-year-old boy's nail condition is mainly cosmetic and improves over time with treatment.
research Cutaneous Neoplasms in Myotonic Dystrophy Type 1
People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Onychomatricoma in the Light of the Microanatomy of the Normal Nail Unit
Onychomatricoma is a unique nail tumor that mimics the entire nail unit and is not related to other hair-related tumors.
research Glabellar pomade crust mimicking dyskeratosis follicularis
The woman's forehead lesion was caused by ointment use and resolved with treatment.
research Morphological and functional analysis on M3R mediated sweating in TSC1 k/o mouse
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research Dermal Mucinosis in the Eosinophilia-Myalgia Syndrome
A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
research Acquired loss of hair pigment associated with a flexural dermatosis
research The disrupted balance between hair follicles and sebaceous glands inHoxc13‐ablated rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.