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Poliosis circumscripta is a patch of white hair caused by lack of melanin, linked to genetic and acquired conditions.

Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.

Early diagnosis of colorectal cancer in young patients with certain symptoms is crucial for better outcomes.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.

A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

A rare calcium deposit condition was found on a man's scalp.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

A man with KID syndrome developed a rare cancer in a long-term skin infection.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

Danon disease can be hard to diagnose due to non-specific symptoms.

NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.

CCCA can affect both genders and all ages, and it has a genetic component.

Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.

A chest X-ray can effectively diagnose ectopic ACTH secretion from lung tumors.

Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.

Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.

A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.

A young woman with severe symptoms of CPAN improved with intensive treatment but needed a leg amputation.

A unique case of skin cancer showed unusual calcification, possibly linked to calcium-binding proteins.

Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.

Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.