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A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.

Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.

The condition is likely inherited in an autosomal-dominant pattern.

A 4-year-old girl has a rare hair condition causing fragile, short hair.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.

BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.

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

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.

Two cows had a rare hair disorder causing hair loss but were otherwise healthy.

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

A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.

The treatment improved facial structure and corrected bite issues in patients.

Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.

Disrupting β-catenin signaling in certain cells causes anorectal malformations.

The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.

A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.

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

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.

Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.

GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.