research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
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research 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report
A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research P131 Menstrual irregularity in hirsute women
Hirsute women with ovarian-sourced hirsutism are more likely to have irregular periods, with higher BMI and altered hormone ratios.
research N02. Hair and Nails
Researchers found new hair and nail genes, how hair reacts to UV, differences in white and pigmented hair growth, nerve changes in alopecia, treatments for baldness and alopecia, a toenail condition linked to a genetic disorder, and that nail fungus is more common in people with psoriasis.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Alopecia: possible causes and treatments, particularly in captive nonhuman primates.
Alopecia in captive primates can be caused by many factors, so thorough testing is needed before blaming stress.
research Poliosis circumscripta: Overview and underlying causes
Poliosis circumscripta is a patch of white hair caused by lack of melanin, linked to genetic and acquired conditions.
research Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Topically applied glycyrrhizic acid causes hair removal in rats
Glycyrrhizic acid from sweet licorice can effectively remove hair without skin irritation.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Erythroderma: clinical and etiological study of 88 cases seen in a tertiary hospital over 25 years
Pre-existing skin conditions and drug reactions are the main causes of exfoliative erythroderma.
research Surgical Correction of cicatricial Entropion in cattle: Two cases
The Hotz-Celsus surgery successfully fixed inward-turning eyelids in cattle.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Keratin 17 null mice exhibit age- and strain-dependent alopecia
Keratin 17 is crucial for early hair strength and cell survival.
research Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype
Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
research Serum AMH levels in the differential diagnosis of hyperandrogenemic conditions
Blood AMH levels are higher in women with PCOS than in those with other similar conditions.
research Roux-en-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiency
Gastric bypass surgery improved a woman's hormonal disorder without the need for medication.
research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
research Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
research The Search for the Causes of Common Hyperandrogenism, 1965 to Circa 2015
Significant progress was made in understanding androgen excess disorders, but much is still unknown.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Diagnosis of Hair Loss: Clinical features of common causes of hair loss.
The document describes the signs of different common types of hair loss.