Ichthyosis (scaly skin)

 

Netherton Syndrome

 

Netherton Syndrome - Patients are characterized by severe ichthyosiform dermatitis, erythroderma, bamboo hair, and immunodeficiency (hypogammaglobulinemia and specific antibody deficiency). Staphylococcal skin infections and upper respiratory infections are common.

 

Omenn Syndrome

 

Omenn Syndrome - Patients develop generalized erythroderma or an eczematous rash followed by diffuse scaling. This rash may result in alopecia or loss of eyebrows/lashes. Oligoclonally expanded T cells infiltrate the skin - biopsies may reveal a lymphocytic infiltrate of CD3+CD4+ T cells.

 

Blau Syndrome

 

Blau Syndrome - Patients may develop tan-colored, scaly, ichthyosiform rash or small papules. An erythema nodosum-like rash may also develop.

 

DIRA

 

DIRA - Patients develop prominent skin findings which range from discrete crops of pustules to diffuse generalized pustulosis, ichthyosis, or pyoderma gangrenosum. Patients also develop prominent bone abnormalities including widening of the anterior ribs, periosteal elevation, and sterile multifocal osteomyelitis.