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A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

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

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.

VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

A new genetic mutation in the hairless gene causes a rare hair loss disorder.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

New mutations in the DSG4 gene cause a rare hair condition.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.

A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

A rare skin condition with cysts was found on a 5-year-old boy's scalp.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

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

ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.

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

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.

A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.

Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.

A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.

Three dogs with a rare skin condition improved with treatment.

Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.