research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
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research Schimmelpenning syndrome with dydimosis aplasticosebacea in a one-month-old girl
Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Short Anagen Syndrome in an Indian Woman with its Impact on Quality-of-Life
An Indian woman with Short Anagen Syndrome had very short hair and a lower quality of life.
research The Frontal Fibrosing Alopecia Syndrome: How a Single Word Name Change Might Change So Much
Renaming frontal fibrosing alopecia to a syndrome could improve diagnosis and treatment.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research Coexistence of acquired localized hypertrichosis and lipoatrophy after lupus panniculitis
Localized hair growth and fat loss may share a common cause in lupus panniculitis.
research Syphilitic alopecia
Syphilitic alopecia is a rare hair loss condition in secondary syphilis that looks similar to another condition but can be diagnosed with specific tests and responds to antibiotics.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
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 Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research Symptoms of ASIA Syndrome in a Female Patient with Tattoos – A Case Report
Tattoos may trigger autoimmune symptoms in some people.
research Challenges in diagnosing ovarian sertoli-leydig cell tumors: A Peruvian case series
Diagnosing Sertoli-Leydig cell tumors is challenging due to their unusual symptoms and can occur at any age.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research POLYCYSTIC OVARY SYNDROME: EXPLORING THE ICEBERG OF A LIFELONG SYSTEMIC DISORDER
PCOS requires comprehensive, lifelong care addressing both visible and hidden health issues.
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.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
research A Rare Case of Steroid Cell Tumor, Not Otherwise Specified (NOS), of the Ovary in a Young Woman
A young woman's rare ovarian tumor was successfully removed, improving her hormonal symptoms.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
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.
research Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus.
A girl with lupus had unusually long and thick eyelashes, a rare symptom of her condition.
research ROLLED HAIRS AND HYPERTRICHOSIS
A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Cutaneous sarcoidosis masquerading as papular amyloidosis revealed post--hair removal
Skin problems after waxing led to a sarcoidosis diagnosis.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research A Rare Case of Adolescent Girl with Beard-PCOS with a Difference: “HAIR-AN Syndrome”
A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.