Rothmund-Thomson syndrome in a Filipino child: Report of a rare case
Journal of the Philippine Dermatological Society
;
: 58-60, 2011.
Article
in English
| WPRIM
| ID: wpr-633072
ABSTRACT
Rothmund-Thomson syndrome (RTS) is a rare, autosomal recessive disorder characterized by early onset of progressive poikiloderma, cutaneous and extracutaneous findings including sparse hair, juvenile cataracts, short stature, skeletal defects, hypogonadism, dystrophic teeth and nails.This is a case of a 4-year-old boy who developed at 2 months of age, reticulated erythematous macules and patches over predominantly sun-exposed areas such as the malar areas, ears, neck, extensor surfaces of the forearms and legs. This later on progressed into poikilodermatous lesions associated with sparse scalp hair, eyebrows, eyelashes and short stature. This is a report on the first documented Filipino patient diagnosed with RTS.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Rothmund-Thomson Syndrome
/
Atrophy
/
Scalp
/
Skin Diseases
/
Cataract
/
Connective Tissue Diseases
/
Dwarfism
/
Eyebrows
/
Eyelashes
/
Forearm
Limits:
Humans
/
Male
Language:
English
Journal:
Journal of the Philippine Dermatological Society
Year:
2011
Type:
Article
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