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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960-990 / 1000+ resultsresearch Lichen myxedematosus in a patient with hepatocellular carcinoma
Removing the liver tumor improved the patient's skin condition and hair growth.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research Ectopic Adrenal Rests in Congenital Adrenal Hyperplasia as a Cause of Androgen Excess after Adrenalectomy Detected by Pelvic Venous Sampling
Ectopic adrenal rests can cause androgen excess after adrenalectomy and may need targeted surgery.
research Matriptase: Potent Proteolysis on the Cell Surface
Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.
research MON-317 Prognostic Factors and Mortality According to the Structural and Functional Classification of Acromegaly
Type 3 acromegaly patients have more health issues and higher death risk.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Animal models for the study of fetal tissue repair
Understanding how fetal wounds heal could help improve healing in adults.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Histopathological and Immunohistochemical Study of Trichoblastoma in the Rabbit
Trichoblastomas in rabbits are linked to uncontrolled embryonic hair growth and have distinct histological features.
research SAT367 A Rare Case of Ovarian Cellular Fibroma Producing Testosterone
A woman's ovarian fibroma caused high testosterone levels, which normalized after surgery.
research Virilizing adrenocortical tumor: a case report
The removal of the adrenal tumor improved the patient's symptoms and reduced androgen levels, indicating successful surgery.
research Multiple desmoplastic trichoepitheliomas with ossification and cholesterol deposition
A man had rare skin tumors with bone formation and cholesterol deposits.
research Sarcoidosis in Polo Ponies: Case Study of Argentine-Cross Breeds
Argentine-cross polo ponies commonly develop sarcoid tumors with distinct types and histopathological features.
research The Roles of Smad2 and Smad3 in Mouse Skin Development
Smad2 and Smad3 are essential for normal skin development, and their absence causes severe skin issues and cancer.
research Proliferating Hybrid Follicular Tumor
A unique type of complex cyst was found on a man's scrotum.
research Cleave but not leave: Astrotactin proteins in development and disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Rare and misdiagnosed entity fibrosing alopecia in a pattern distribution: A case report
A woman's progressive hair loss was correctly diagnosed as a rare condition called fibrosing alopecia in a pattern distribution after initially being mistaken for a more common type.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research CUTANEOUS MASTOCYTOSIS IN CHILDREN: AN INDIAN EXPERIENCE
Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
research A case of pili torti in a young adult domestic short-haired cat
A young cat had a rare hair condition with twisted hair shafts but stayed healthy.
research Assessment, Treatment, and Prevention Strategies for Hair-Thread Tourniquet Syndrome in Infants
To prevent and treat Hair-thread tourniquet syndrome in infants, keep a close eye on their limbs, manage maternal hair loss, and educate parents and healthcare providers.
research Tissue Dynamics in the Three-Hair-Bearing Flap Transposition
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research Malignant appearance of trichilemmal cyst: a case report with review of the literature
A man's neck lump was a trichilemmal cyst, not cancer, and should be fully removed due to rare risk of becoming malignant.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.