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Congenital erythropoietic porphyria

Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.

Milia

Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.

Total: 1

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PMID (PMCID)
17921617	MIXED_SAMPLE	Adult
	Congenital erythropoietic porphyria in three siblings.
	Bari AU. Indian J Dermatol Venereol Leprol. 2007;73(5):340-2.
	Congenital erythropoietic porphyria is a rare autosomal recessive disorder that usually presents with marked skin photosensitivity, hypertrichosis, blistering, scarring, milia formation and dyspigmentation of the photo-exposed areas.