research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
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840-870 / 1000+ resultsresearch Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research Localized trichorrhexis nodosa
Localized trichorrhexis nodosa is a hair condition where hair becomes fragile and breaks easily due to damage.
research Granular Parakeratosis of the Eccrine Ostium: A Case Report
Accurate diagnosis of granular parakeratosis is crucial for effective treatment and improvement.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Erosive pustular dermatosis of the scalp from topical minoxidil 5% solution
A woman developed a scalp condition from using minoxidil, which improved with a different treatment but left scarring.
research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research Ichthyosis follicularis with alopecia and photophobia in a mother and daughter
A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Warty Dyskeratoma Involving Two Adjoining Follicles
A rare scalp tumor involving two hair follicles was successfully removed with surgery, with no recurrence after 7 months.
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research Erosive Pustular Dermatosis of the Scalp Induced by Imiquimod
An 84-year-old man got a rare scalp condition from using imiquimod cream, which was cured with systemic steroids.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Erosive Pustular Dermatosis of the Scalp Following Hair Transplantation: A Rare Complication
Hair transplants can rarely cause scalp inflammation leading to hair loss, needing early detection and treatment.
research Hypo- versus hyper-thyroidism in 2 cats: the culprit for miliary dermatitis/hypersensitivity versus growth retardation
One cat with low thyroid hormone had growth issues, and another with high thyroid hormone had skin problems; both got better with treatment.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Erosive Pustular Dermatosis: Delving into Etiopathogenesis and Management
Topical corticosteroids are the main treatment for Erosive Pustular Dermatosis, but recurrence is common after stopping treatment.
research Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock
Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
research Sparse Hair on the Scalp
A 5-year-old girl has sparse, dry, and brittle hair but is otherwise healthy.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Endocrinologic Aspects of Hidradenitis Suppurativa
Hormones might affect the skin condition hidradenitis suppurativa, but their exact role is unclear.
research Erosive pustular dermatosis of the scalp: causes and treatments
A rare scalp condition mainly in older women can be treated with various alternatives to steroids, which may have fewer side effects.
research Catagen in the hairless house mouse
Hairless mice have longer hair follicles and abnormal structures during the catagen phase.
research Focal Scalp Hair Heterochromia in an Infant
An infant had two different natural hair colors on the scalp with no health issues.