Erythrokeratodermia variabilis et progressiva 6- MedGen UID:
- 1681026
- •Concept ID:
- C5193144
- •
- Disease or Syndrome
EKVP6 is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces. Intrafamilial variation in severity has been observed, and most affected individuals experience slowly progressive spontaneous remission after puberty (Wang et al., 2019).
For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).
Immunodeficiency 115 with autoinflammation- MedGen UID:
- 1847791
- •Concept ID:
- C5882724
- •
- Disease or Syndrome
Immunodeficiency-115 with autoinflammation (IMD115) is an autosomal recessive disorder characterized by the onset of symptoms of immune dysregulation in early infancy. Affected individuals have immunodeficiency with recurrent bacterial, viral, and fungal infections, as well as autoinflammatory features, including arthritis and dermatitis. Some patients may have more systemic involvement, such as myopathy, gastrointestinal abnormalities, and anemia. Laboratory studies show variable B-cell and T-cell defects, sometimes with defective antibody responses and hypogammaglobulinemia (Boisson et al., 2015; Oda et al., 2019).