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A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.

Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.

A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.

Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.

Clouston syndrome can lead to skin cancer, so monitoring is crucial.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

CARASIL can cause different symptoms even with the same genetic mutation.

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

Temporal triangular alopecia is a non-scarring hair loss in children, often linked to other health conditions.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

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

Traumatic anserine folliculosis is a harmless skin condition in young males that needs correct diagnosis to avoid unnecessary treatments.

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

Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.

Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

Dermoscopy helps accurately diagnose temporal triangular alopecia, avoiding unnecessary treatments.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

Finasteride may help reduce symptoms in male Tourette syndrome patients.

A man developed rare complications after nose surgery, stressing the need for better prevention.

Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.

Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.

Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.

Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.

Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.