research Clinical study of twenty-nail dystrophy in Korea
The Korean study found that twenty-nail dystrophy mainly affects adults, more often women, and has five distinct types with different clinical progressions.
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research Ovarian Stromal Hyperthecosis and Hyperandrogenemia Refractory to Hormonal Suppression
Removing both ovaries may better treat increased male hormone levels and related symptoms in postmenopausal women when hormone therapy doesn't work.
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 Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Adult Onset Isolated Hypogonadotropic Hypogonadism- a Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
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 New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Secondary amenorrhoea with absent axillary hair
The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research POSTMENOPAUSAL HIRSUTISM: A CASE REPORT
A rare ovarian tumor caused a postmenopausal woman to develop male-like features, which improved after surgery.
research Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research 5116 Postmenopausal Hyperandrogenism due to Rare Ovarian Tumor
Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
research A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Nail Matrix Pathology in Cronkhite–Canada Syndrome: The First Case Report
Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
research Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses
Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.