Clinical quiz. Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome).
Identifieur interne : 005998 ( Main/Exploration ); précédent : 005997; suivant : 005999Clinical quiz. Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome).
Auteurs : Jean Kanitakis [France] ; Alain ClaudySource :
- European journal of dermatology : EJD [ 1167-1122 ]
English descriptors
- KwdEn :
- MESH :
- abnormalities : Thumb, Toes.
- diagnosis : Rubinstein-Taybi Syndrome.
- genetics : Chromosomes, Human, Pair 16, Mutation, Rubinstein-Taybi Syndrome.
- pathology : Rubinstein-Taybi Syndrome.
- Adult, Female, Humans, Keloid, Phenotype.
Abstract
A 28-year-old mentally retarded, institutionalised woman was referred to us for evaluation of multiple plantar warts and ingrown nails of both great toes. The patient was born to unrelated parents of North African origin and had one brother and three half-brothers, all of whom were healthy. Physical examination revealed short stature, slight obesity, facial abnormalities (Fig. 1), short and broad thumbs and big toes (Figs. 2 and 3). A keloid was found on the right forearm, that had developed after surgical correction of a fracture (Fig. 4). Ill-defined hyperpigmented macules were observed on the trunk. The patient also presented pruritic eczematous lesions of the limbs and the back that had been present for some years and were recurrent despite treatment with emollients and local steroids. Androgenetic-type alopecia of moderate severity was seen on the vertex of the scalp. Past medical history included polydactylism of the feet and clinodactyly of the thumbs (both corrected surgically), respiratory tract infections, Wolf-Parkinson-White syndrome and refractive errors necessitating glasses.
PubMed: 11809612
Affiliations:
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Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome).</title><author><name sortKey="Kanitakis, Jean" sort="Kanitakis, Jean" uniqKey="Kanitakis J" first="Jean" last="Kanitakis">Jean Kanitakis</name><affiliation wicri:level="3"><nlm:affiliation>Department of Dermatology, Hôpital édouard-Herriot, 69437 Lyon Cedex 03, France. kanitak@lyon151.inserm.fr</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Dermatology, Hôpital édouard-Herriot, 69437 Lyon Cedex 03</wicri:regionArea><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Claudy, Alain" sort="Claudy, Alain" uniqKey="Claudy A" first="Alain" last="Claudy">Alain Claudy</name></author></analytic><series><title level="j">European journal of dermatology : EJD</title><idno type="ISSN">1167-1122</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Chromosomes, Human, Pair 16 (genetics)</term><term>Female</term><term>Humans</term><term>Keloid</term><term>Mutation (genetics)</term><term>Phenotype</term><term>Rubinstein-Taybi Syndrome (diagnosis)</term><term>Rubinstein-Taybi Syndrome (genetics)</term><term>Rubinstein-Taybi Syndrome (pathology)</term><term>Thumb (abnormalities)</term><term>Toes (abnormalities)</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Thumb</term><term>Toes</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Rubinstein-Taybi Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 16</term><term>Mutation</term><term>Rubinstein-Taybi Syndrome</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Rubinstein-Taybi Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Keloid</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 28-year-old mentally retarded, institutionalised woman was referred to us for evaluation of multiple plantar warts and ingrown nails of both great toes. The patient was born to unrelated parents of North African origin and had one brother and three half-brothers, all of whom were healthy. Physical examination revealed short stature, slight obesity, facial abnormalities (Fig. 1), short and broad thumbs and big toes (Figs. 2 and 3). A keloid was found on the right forearm, that had developed after surgical correction of a fracture (Fig. 4). Ill-defined hyperpigmented macules were observed on the trunk. The patient also presented pruritic eczematous lesions of the limbs and the back that had been present for some years and were recurrent despite treatment with emollients and local steroids. Androgenetic-type alopecia of moderate severity was seen on the vertex of the scalp. Past medical history included polydactylism of the feet and clinodactyly of the thumbs (both corrected surgically), respiratory tract infections, Wolf-Parkinson-White syndrome and refractive errors necessitating glasses.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Rhône-Alpes</li></region><settlement><li>Lyon</li></settlement></list><tree><noCountry><name sortKey="Claudy, Alain" sort="Claudy, Alain" uniqKey="Claudy A" first="Alain" last="Claudy">Alain Claudy</name></noCountry><country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Kanitakis, Jean" sort="Kanitakis, Jean" uniqKey="Kanitakis J" first="Jean" last="Kanitakis">Jean Kanitakis</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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