research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
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240-270 / 1000+ results research Hybrid Eccrine Gland and Hair Follicle Hamartoma
A rare skin growth in a baby was successfully removed without coming back.
research Porokeratotic eccrine ostial and dermal duct nevus: A noteworthy presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Atrichia with Papular Lesions: Dermoscopy to the Rescue
Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
Congenital atrichia with papular lesions causes permanent hair loss in children.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Atrichia and Papular Lesions: Report of a Case
A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research A case of erosive pustular dermatosis of the scalp in a pediatric patient
EPDS can cause recurring scalp sores and hair loss if not treated.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans
The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
research The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle
P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Erythrokeratodermia Variabilis
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research A Case of Acrodermatitis Enteropathica
Acrodermatitis Enteropathica is a rare skin condition treated effectively with zinc supplements, and early diagnosis is key.