research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
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research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research First Case of Degenerative Mucinotic Mural Folliculitis in Brazil
A cat in Brazil was found with a severe skin condition linked to feline AIDS.
research Insulin Resistance, Acanthosis Nigricans, and Polycystic Ovaries Associated with a Circulating Inhibitor of Postbinding Insulin Action
A circulating inhibitor caused insulin resistance, but clomiphene improved symptoms.
research P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research Hidradenitis suppurativa: an-androgen-dependent disorder
Hidradenitis suppurativa improves with antiandrogen therapy.
research A rare case of an androgen-producing stromal luteoma of the ovary in a postmenopausal woman, diagnosed by means of selective venous blood sampling
Doctors used a special blood sampling technique to diagnose a woman's rare ovarian tumor that was producing male hormones.
research Folliculotropic CD8+ mycosis fungoides associated with diffuse mucosal involvement
A rare type of skin cancer with mucosal involvement was partially treated but eventually relapsed.
research SnapshotDx Quiz: May 2020
BIVV009 is a safe treatment for bullous pemphigoid that reduces C3 deposition without harmful side effects.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research A RARE PRESENTATION OF AN OVERLAP CONNECTIVITY AS PURPURA FULMINANS: A CASE REPORT
Purpura fulminans can signal underlying autoimmune disorders, not just infections.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Epitopes, avidity and IgG subclasses of tyrosine hydroxylase autoantibodies in vitiligo and alopecia areata patients
TH antibodies in vitiligo and AA patients recognize the same protein parts.
research The status of the oral drugs for chronic central serous chorioretinopathy
More research is needed to confirm the long-term effects of oral drugs for chronic central serous chorioretinopathy.
research Coexistence of angiolymphoid hyperplasia with eosinophilia and pulmonary neoplasia
A man with both skin lesions and lung cancer improved quickly with chemotherapy, suggesting the skin condition might be a reaction to immune system injury.
research Full‐house nephropathy in antinuclear antibody‐negative systemic lupus erythematosus: A case report
ANA-negative lupus nephritis can be diagnosed and treated effectively with a comprehensive approach.
research Treatment of hirsutism with a gonadotropin-releasing hormone agonist and estrogen replacement therapy
The combination therapy reduced hirsutism in women with PCOD and was well-tolerated.
research Cronkhite-Canada Syndrome Associated With Superficial Esophageal Carcinoma: A Case Report and Literature Review
Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research ACE2 and TMPRSS2 Potential Involvement in Genetic Susceptibility to SARS-COV-2 in Cancer Patients
Targeting ACE2 and TMPRSS2 may help prevent or treat COVID-19 in cancer patients.
research Finasteride for Chronic Central Serous Chorioretinopathy
research Faculty Opinions recommendation of Hidradenitis suppurativa as a potential subtype of autoinflammatory keratinization disease.
Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
research Finasteride-Associated Central Serious Chorioretinopathy
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Uveodermatological syndrome associated with alopecia areata in a one‐year‐old female spayed Cavalier King Charles Spaniel dog
A Cavalier King Charles Spaniel had both uveodermatological syndrome and alopecia areata, and treatment with ciclosporin helped regrow hair.
research Effects of Antiandrogen Treatment on the Sexuality of Women with Hyperandrogenism
Antiandrogen treatment can reduce sexual enjoyment in women with excess male hormones, especially those in stable relationships.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research Unusual Microsporum canis infections in adult HIV patients
Itraconazole was effective in treating unusual M. canis infections in only one of two HIV-infected men.