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Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

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

The man has a genetic skin condition called pachyonychia congenita.

Many people with inflammatory bowel disease have a vitamin C deficiency, which can lead to scurvy symptoms.

A new DSG4 gene mutation causes hair defects in a young girl.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

Scurvy may cause symptoms similar to Sjögren's syndrome, which disappear with vitamin C.

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

Anti-phospholipid antibodies in SLE can cause thrombosis and bone necrosis.

R-Spondin-1 is important for skin health and could help diagnose and treat various skin conditions.

A rare case of scleredema in a diabetic woman showed loss of sweat glands, causing heat strokes, with treatment only slightly improving symptoms.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

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

A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.

A specific gene mutation causes varying hair loss severity in a Pakistani family.

The man's symptoms improved after treating his scurvy with high-dose vitamin C.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

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

PNH can occur in patients with SLE, so doctors should be aware of this.

Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.

People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.

A vitamin D receptor mutation causes rickets and affects immune responses.

Mutations in the SNRPE gene cause hereditary hair loss.