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The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.

Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.

Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.

Trichothiodystrophy causes unusual hair and developmental issues.

Björnstad syndrome causes twisted hair from birth.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

A CCS patient with severe complications was successfully treated using combined therapies.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.

A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.

Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.

Minoxidil treatment improves heart defects in a DiGeorge syndrome model.

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

Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.

Temporal triangular alopecia may be linked to sebaceous nevus and shows a new pinkish background feature.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

Toe Tourniquet Syndrome is often misdiagnosed.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

Cantú syndrome may be linked to pituitary adenomas.

Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.

A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.

A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.

Cantú syndrome is caused by mutations in the ABCC9 gene.