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Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.

A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.

Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.

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

Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.

Treatment improved symptoms in a woman with HAIR-AN syndrome.

Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.

Researchers identified a new hair loss pattern called "sisaipho type," where hair is lost across the scalp except around the edges.

A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.

RHUPUS should be considered in children with deforming arthritis.

Patients with Complete Androgen Insensitivity Syndrome need psychological support and multidisciplinary care for complex treatment decisions.

A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.

The document concludes that the girl's hairlessness is likely inherited from her parents.

A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.

Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.

The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.

A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.

A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.

A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.

Björnstad syndrome causes twisted hair from birth.

Reducing immunosuppression and using antiviral creams improved the woman's skin condition.

People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.

Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.

Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.