[Hereditary photodermatoses].

[kindler syndrome]

Hereditary photodermatoses are characterized by an increased photosensitivity caused by an inherited single gene defect . With few exceptions , they manifest in early childhood , reveal heterogeneous clinical symptoms , and are difficult to treat . Although these diseases are rare , it is very important to make an accurate diagnosis on the basis of clinical symptoms , specific diagnostic tests , and direct DNA analysis . We review the spectrum of inherited photodermatoses , including porphyria cutanea tarda , erythropoietic protoporphyria , actinic prurigo , Kindler syndrome , and disorders associated with a defect in DNA repair , including xeroderma pigmentosum , trichothiodystrophy , Cockayne syndrome , and Bloom syndrome . Early diagnosis may prevent complications associated with prolonged unprotected exposure to sunlight and makes it possible to offer genetic counseling and , when indicated , prenatal diagnosis to families at risk for these rare heritable disorders .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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