research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
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research ASSOCIATION OF SYSTEMIC LUPUS ERYTHEMATOSUS AND CHRONIC GRANULOMATOUS DISEASE IN ADULTS: REPORT OF 2 CASES
Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research Systemic-Onset Juvenile Idiopathic Arthritis with unusual Cutaneous Manifestation and peripheral eosinophilia: Case Report
Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research Lupus erythematosus, thyroiditis, alopecia areata and vitiligo – A multiple autoimmune syndrome type 3 case presentation
A 22-year-old with multiple autoimmune diseases needs a multidisciplinary treatment approach.
research SkIndia Quiz 24: Itchy papules over face
A rare skin condition called Eruptive Vellus Hair Cyst can cause itchy papules on the face.
research Persistent Milia, Steatocystoma multiplex and Eruptive Vellus Hair Cysts: Variable Expression of Multiple Pilosebaceous Cysts within an Affected Family
Milia, SM, and EVHC may be related conditions, not separate ones.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Familial Occurrence of Eruptive Vellus Hair Cysts
Eruptive vellus hair cysts can run in families.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Dermatologic manifestations of endocrine disorders
Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
research Linear trichoepithelioma on the neck of a 15-year-old girl
A 15-year-old girl has a benign skin tumor on her neck.
research Severe Physical Complications among Survivors of Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis
SJS/TEN survivors often have severe, overlooked long-term physical problems that are not properly treated after leaving the hospital.
research HHV-6A and HHV-6B in Drug-Induced Hypersensitivity Syndrome/Drug Reaction with Eosinophilia and Systemic Symptoms
The document concludes that reactivation of herpesviruses, especially HHV-6, is linked to severe symptoms and complications in drug-induced hypersensitivity syndrome.
research Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
Some scalp sores are linked to different inherited skin conditions.
research MON-330 Cushing Syndrome Secondary to Neuroendocrine Lung Carcinoma: To X-Ray or Not to X-Ray?
A chest X-ray can effectively diagnose ectopic ACTH secretion from lung tumors.
research Erosive pustular dermatosis of the scalp: A case report
Timely treatment of EPDS can reduce scarring.
research Bilateral Nevus Comedonicus of the Eyelids
A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
research Case of alopecia universalis accompanied by minimal change nephrotic syndrome
A possible link exists between minimal change nephrotic syndrome and complete hair loss.
research Porokeratotic eccrine ostial and dermal duct nevus: A noteworthy presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
research Association of internet addiction symptoms with hair cortisol and hair testosterone concentrations
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
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 Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
Dupilumab improved hair and skin in a woman with Netherton syndrome.
research Follicular mucinosis in association with Sezary syndrome
A patient with Sézary syndrome showed improvement after treatment and the study suggested follicular mucinosis might indicate future lymphoma risk.