Progeria adultorum E34.8

Hereditary segmental progeria syndrome of the adult with premature regression of various organ systems, but considerable differences to the aging process (e.g. CNS is not affected; different tumor spectrum). Hence the term "segmental progeria syndrome" or "caricature of aging".

Autosomal recessive genetic defect in the WRN gene (gene locus 8p12-p11.2) which encodes a DNA helicase of the RecQ family. This helicase is involved in the opening of DNA prior to cell division. The mutation leads to genetic instability, with increased risk of developing malignancies. Furthermore, it is associated with increased synthesis of collagen I and III.

• Prepubertal completely inconspicuous development, postpubertal growth retardation. Usually average intelligence and absence of senile brain changes.
• Integument: Atrophy of the skin with numerous telangiectasias, extensive atrophy of the subcutaneous fatty tissue in the distal tibial and the entire foot area with hyperkeratosis and tendency to trophic ulceration. On the lower legs with taut atrophy of skin and muscles starting with sclerosis of the connective tissue. Often plantar hyperkeratosis and nail dystrophy. Canities praecox (premature graying of the hair) mostly 20. to 30. LJ. Premature alopecia areata diffusa, poikiloderma, striae cutis distensae, trophic leg ulcers. Symptoms of Progeria adultorum.
• Extracutaneous manifestation: Bilateral juvenile cataracts already around 30 years of age. Hypogonadism, testicular atrophy (see also Pseudo-Klinefelter syndrome), azoospermia tendency to type II diabetes and osteoporosis, early arteriosclerosis and coronary sclerosis (heart attack). Cawing high voice, vocal cord leukoplakia, dwarfism with characteristic habitus. Bird face, loss of facial expression.
• Increased risk of tumours (sarcomas, meningiomas, fewer carcinomas). Abnormal glycosaminoglycan metabolism with increased excretion of hyaluronic acid in urine. Often metastatic calcifications.

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