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Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

Monilethrix is not caused by a metabolic defect.

Consider Castleman's disease in similar cases; histology and steroids help diagnose and manage it.

Monilethrix is linked to the type II keratin gene on chromosome 12q13.

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.

The study identified diverse cell types and gene expressions in ovarian steroid cell tumors, improving understanding of this rare tumor.

Two patients with Cronkhite-Canada syndrome achieved remission after treatment.

A gene mutation causes monilethrix in a Chinese family.

The antibody created from BCC tissues reacts similarly to both BCC and hair follicles, suggesting BCC may come from hair follicle cells.

A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.

The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.

BKN-1 antibody targets specific keratin in basal cell epithelioma and normal skin basal cells.

A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.

Some skin growths with mucin can form hair follicles and resemble skin cancer, but a special stain can help tell them apart.

Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.

Flow cytometry was effective in diagnosing metastatic breast cancer in a bone marrow sample.

A rare skin condition linked to leukemia improved with chemotherapy.

Alopecia can be caused by multicentric reticulohistiocytosis.

Prednisone reduces organ mast cell infiltration but does not alter the abnormal appearance of mast cells in systemic mastocytosis.

Monilethrix causes brittle hair and hair loss, and it runs in families.

Monilethrix hair issues are due to problems in the hair's internodes.

Sweet syndrome can be the only sign of hairy cell leukemia relapse.

An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.

A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.

A young woman with a rare skin cancer was diagnosed late because her symptoms were unusual for the disease.