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A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

EFFC might be common but underreported.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

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

Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.

Chronic Acrodermatitis Enteropathica can persist into adulthood and requires careful zinc treatment.

A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.

A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.

A woman got a skin rash from taking aceclofenac, which went away after she stopped the drug.

Pityriasis amiantacea is a scalp condition with thick, greasy scales and sometimes hair loss.

A rare tumor caused unusual hormone production leading to Cushing syndrome.

A rare skin condition causes red and dark patches on the face and limbs.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.

Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.

Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.

This rare genetic disorder causes permanent hair loss and skin bumps from birth.

Cantú syndrome may be linked to pituitary adenomas.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.

Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

Pityriasis amiantacea is likely linked to eczema-related skin changes.

The conclusion is that Erosive Pustular Dermatosis of the Scalp is a rare condition best treated with strong topical steroids and sometimes systemic treatment.

Scalp condition healed with prednisone and tacrolimus.

A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.

KID syndrome should be reclassified as an ectodermal dysplasia.