Hereditary acrodermatitis enteropathica- MedGen UID:
- 66355
- •Concept ID:
- C0221036
- •
- Disease or Syndrome
Acrodermatitis enteropathica of the zinc deficiency type (AEZ) is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous. Noteworthy is the cure by diodoquin, or diiodohydroxyquinoline (Dillaha et al., 1953; Bloom and Sobel, 1955). Rodin and Goldman (1969) described autopsy findings, including pancreatic islet hyperplasia, absence of the thymus and of germinal centers, and plasmocytosis of lymph nodes and spleen.
Pelger-Huet-like anomaly and episodic fever with abdominal pain- MedGen UID:
- 376692
- •Concept ID:
- C1850054
- •
- Disease or Syndrome
Immunodeficiency-108 with autoinflammation (IMD108) is an autosomal recessive disorder characterized mainly by features of autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence. Affected individuals also have recurrent infections, particularly of the skin and nails; poor wound healing; and mild bleeding tendencies. Peripheral blood examination shows hypolobulated neutrophils, suggesting a defect in myeloid differentiation and function. However, neutrophil primary and secondary granules are normal (summary by Goos et al., 2019).
Neuropathy, hereditary sensory and autonomic, type 2A- MedGen UID:
- 416701
- •Concept ID:
- C2752089
- •
- Disease or Syndrome
Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.
Inflammatory skin and bowel disease, neonatal, 1- MedGen UID:
- 482131
- •Concept ID:
- C3280501
- •
- Disease or Syndrome
Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.