research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
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research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research Toxic Epidermal Necrolysis
Toxic epidermal necrolysis is a severe skin condition often caused by drugs, with complex treatment and a high risk of death, but survivors usually heal without scars.
research Twenty-Nail Dystrophy of Alopecia Areata
"20-nail dystrophy" can have multiple causes.
research An Adult With Hair Loss! a Rare Case of Non-Classical 3β Hydroxysteroid Dehydrogenase (3β HSD) Deficiency
A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
research Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
research Erosive Pustular Dermatosis of the Scalp: Clinicopathological Correlation Leading to a Definition of Diagnostic Criteria.
Chronic scalp lesions with crusts and pus indicate Erosive Pustular Dermatosis, which is confirmed by biopsy and effectively treated with strong topical steroids.
research Acquired Generalized Hypertrichosis Due to Diazoxide
A 6-year-old boy developed excessive hair growth after taking diazoxide for low blood sugar.
research Dipyridamole-Associated Shock and Pulmonary Edema; Oxcarbazepine-Induced Resistant Ventricular Fibrillation; Finasteride-Induced Pseudoporphyria; Suicidal Ideation Associated with Asenapine; Rediscovering Adverse Anticholinergic Effects; Prevalence of Adverse Drug Events in Ambulatory Care
research Localized Acquired Perforating Dermatosis on Scalp Presented With Acute and Diffuse Total Alopecia
Treatment improved scalp conditions and hair loss with no recurrence after 1 year.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Severe Hair Loss of the Scalp due to a Hair Dye Containing Para phenylenediamine
A woman lost most of her hair due to an allergic reaction to a hair dye ingredient.
research BG02 A case of Werner syndrome: undiagnosed progeroid syndrome presenting as female pattern hair loss
A person with Werner syndrome was initially thought to just have female pattern hair loss.
research Decades of progressive red and yellow nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
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 Sorafenib-induced eruption resembling pityriasis rubra pilaris
A man developed a rash similar to pityriasis rubra pilaris after starting sorafenib for cancer, possibly due to the drug's effect on skin cells.
research Severe dermographism after topical therapy with diphenylcyclopropenone for alopecia universalis
A man developed severe skin reactions after using a treatment for hair loss.
research Alopecia in Cronkhite-Canada syndrome
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Alopecia areata in Down syndrome: a clinical evaluation
People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research Cellulite severity scale
Eating disorders can cause hair loss.
research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.