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Items: 3

1.

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectasias, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia. [from GTR]

MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
2.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
3.

Poikiloderma

A localized skin condition commonly associated with sun exposure that is characterized by variegated discoloration, telangiectasia and atrophy.(NICHD) [from NCI]

MedGen UID:
97905
Concept ID:
C0392777
Disease or Syndrome
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