research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
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300-330 / 1000+ resultsresearch Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Hidradenitis suppurativa: a review of cause and treatment
Hidradenitis suppurativa is a skin condition possibly caused by hair follicle issues, with treatments focusing on infection and inflammation.
research H15 Inflammation of the hair follicle: multiple eponyms!
Hidradenitis suppurativa has had many names, but its naming is still not agreed upon.
research Ichthyosis vulgaris involving the scalp area affected by androgenetic alopecia.
research Preliminary findings suggest hidradenitis suppurativa may be due to defective follicular support
Hidradenitis suppurativa is likely caused by blocked hair follicles, not apocrine glands.
research Hidradenitis suppurativa/Acne inversa: an endocrine skin disorder?
Hidradenitis suppurativa may be related to hormones and patients often have metabolic disorders; more research is needed to understand this connection.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Trichostasis Spinulosa of the Heel: Unique Presentation with Characteristic Morphology
A rare skin condition usually on the face was found on a man's heel.
research Contact Dermatitis Caused by a Grass, Axonopus compressus in a Healthy Adult Male Practising Open Defaecation
Avoiding exposure to certain grasses can prevent skin allergies, highlighting the importance of proper sanitation.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
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 Hidradenitis suppurativa: A folliculotropic disease of innate immune barrier dysfunction?
Hidradenitis suppurativa is a skin disease caused by the breakdown of the skin's natural immune barriers, especially around hair follicles.
research Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia
A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Eruptive vellus hair cysts of the labia majora: detection of openings of the cysts to the epidermis by dermoscopy
Dermoscopy can non-invasively detect eruptive vellus hair cysts on the labia majora.
research Hidradenitis suppurativa in pediatric patients treated with finasteride: A case series
Finasteride improved hidradenitis suppurativa in kids without side effects.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Transient scrotal hair growth in infancy
Some infants temporarily grow scrotal hair, which usually disappears on its own without any health issues.
research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Follicular Hybrid Cyst With Isthmic-Catagen, Pilomatrical, and Syringocystadenoma Papilliferum Components
A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
research Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research An innovative technique of hydrosurgery in the treatment of osmidrosis
Hydrosurgery is effective, safe, and causes fewer scars and complications than traditional methods.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research Penile Thread Tourniquet Syndrome: A Case Report and Review of Age-Related Variability
Awareness of Penile Thread Tourniquet Syndrome is crucial for preventing severe complications in children.
research Koinfeksi Sifilis Sekunder, Condyloma Acuminata dan Human Immundeficiency Virus (HIV) pada Pria Homoseksual
A 22-year-old homosexual man was diagnosed with secondary syphilis, genital warts, and HIV, highlighting the high STI risk in men who have sex with men.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.