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Items: 4

1.

Hereditary acrodermatitis enteropathica

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. [from OMIM]

MedGen UID:
66355
Concept ID:
C0221036
Disease or Syndrome
2.

Acroerythrokeratoderma

Mal de Meleda (MDM) is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities (summary by Fischer et al., 2001). [from OMIM]

MedGen UID:
7522
Concept ID:
C0025221
Congenital Abnormality; Disease or Syndrome
3.

Inflammatory skin and bowel disease, neonatal, 1

Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene. [from MONDO]

MedGen UID:
482131
Concept ID:
C3280501
Disease or Syndrome
4.

IFAP syndrome 2

Follicular ichthyosis, atrichia, and photophobia syndrome-2 (IFAP2) is characterized by ichthyosis follicularis or follicular hyperkeratosis, sparse to no body hair, and photophobia with corneal lesions. Ultrastructural hair analysis shows trichorrhexis nodosa (Wang et al., 2020). For a discussion of genetic heterogeneity of IFAP syndrome, see IFAP1 (308205). [from OMIM]

MedGen UID:
1763502
Concept ID:
C5436607
Disease or Syndrome
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