research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
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research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Skin features in myotonic dystrophy type 1: An observational study
People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Keratosis Follicularis Spinulosa Decalvans
KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
research Keratosis pilaris with adjacent haemosiderin deposition: a clue to scurvy
A man's skin condition and poor diet led to a scurvy diagnosis.
research Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia
A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
research Altered expression of keratin 14 in lesional epidermis of autoimmune skin diseases
Keratin 14 may be an autoantigen in autoimmune skin diseases.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research XEDAR activates the non-canonical NF-κB pathway
XEDAR triggers a specific signaling pathway in cells.
research Nail Matrix Pathology in Cronkhite–Canada Syndrome: The First Case Report
Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
research Ichthyosis vulgaris involving the scalp area affected by androgenetic alopecia.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research Prolonged Drug-Induced Hypersensitivity Syndrome/DRESS With Alopecia Areata and Autoimmune Thyroiditis
A severe medication reaction required long treatment and led to hair loss and thyroid issues.
research 259 Scalp hair follicle dermal sheath fibroblasts express genes associated with promotion of skin integrity/wound healing and prevention of autoimmune responses in Recessive Dystrophic Epidermolysis Bullosa
Scalp hair follicle cells help protect and heal skin in certain skin conditions.
research Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis
Gene and cell therapies are being developed to treat rare skin conditions like epidermolysis bullosa and ichthyosis.
research Embolic Stroke as the Initial Manifestation of Systemic Lupus Erythematosus
Early recognition and management of connective tissue diseases like lupus are crucial in young patients.
research A patient with Cronkhite-Canada syndrome whose entire digestive tracts was examined endoscopically
Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
research A Case of Idiopathic Twenty-Nail Dystrophy
A 10-year-old boy's nail condition is mainly cosmetic and improves over time with treatment.
research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Prevalence and Metabolic Characterization of Polycystic Ovary Syndrome in a Cohort of Patients Diagnosed with Spina Bifida: Study Protocol
PCOS may be linked to spina bifida in young females.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research Msx2 Prevents Stratified Squamous Epithelium Formation in the Enamel Organ
Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
research Atypical Presentation of Systemic Lupus Erythematous with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.