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A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.

Autoimmune gastritis is a common cause of iron deficiency and should be included in diagnostic guidelines.

A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.

Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.

Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.

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

PCOS is a major health issue affecting multiple hormone-producing organs.

H. pylori infection may be linked to insulin resistance in women with PCOS.

IBS is linked to certain skin conditions like psoriasis and rosacea, and vice versa.

Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.

A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.

Activating β-catenin and inactivating PTEN cause follicular tumors, not papillomas, similar to those in Cowden’s Disease.

A 73-year-old woman with Hypopigmented Mycosis Fungoides, a rare skin lymphoma, experienced disease progression despite treatment, emphasizing the need for ongoing monitoring.

Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.

Microvascular damage and platelet issues persist in ulcerative colitis remission, helping assess disease states.

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

In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.

An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

DPR can show different hair characteristics, as seen in two brothers with normal hair.

A skin condition called pyodermatitis vegetans was found in a patient with multiple myeloma for the first time.

Polymenorrhoea should be included in PCOS diagnostic criteria due to similar metabolic issues.

Eating a Mediterranean diet and taking certain supplements may improve symptoms of PCOS.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.

Skin problems like excessive hair growth, acne, and dark skin patches can be signs of Polycystic Ovarian Disease, which may also be linked to family history and a risk for diabetes.

IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.