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Hutchinson - Gilford progeria syndrome: A rare case report.

Kashyap S, Shanker V, Sharma N - Indian Dermatol Online J (2014)

Bottom Line: He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs.Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome.This interesting case is reported for its rarity.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.

ABSTRACT
Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome. This interesting case is reported for its rarity.

No MeSH data available.


Related in: MedlinePlus

Typical facies of progeria: Senile look with prominent eyes, sparse hair, beaked nose, and receded chin
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Figure 1: Typical facies of progeria: Senile look with prominent eyes, sparse hair, beaked nose, and receded chin

Mentions: A three-year-old boy presented with progressive loss of scalp hair, eyebrows, and eyelashes since six months of age along with stunted growth as a major complaint. The child's antenatal history was normal but was born to third-degree consanguineously married parents. On examination, he had a senile look with prominent eyes, sparse hair with patches of alopecia and visible veins over the scalp, beaked nose, and receded chin [Figure 1]. His voice was high pitched and growth was stunted as parameters were less than the third percentile. Teeth and genitals were normal and intelligence quotient (IQ) was corresponding to the age. Hands were short and clawed with thickening and hardening of the skin over the knuckles with racquet nails. The ribs were prominent and anterior fontanelle was open. There was mottled pigmentation and sclerodermatous changes over the trunk and lower limbs [Figure 2]. Lower limbs also had prominence of knees and slight valgus deformity [Figures 3 and 4].


Hutchinson - Gilford progeria syndrome: A rare case report.

Kashyap S, Shanker V, Sharma N - Indian Dermatol Online J (2014)

Typical facies of progeria: Senile look with prominent eyes, sparse hair, beaked nose, and receded chin
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4228646&req=5

Figure 1: Typical facies of progeria: Senile look with prominent eyes, sparse hair, beaked nose, and receded chin
Mentions: A three-year-old boy presented with progressive loss of scalp hair, eyebrows, and eyelashes since six months of age along with stunted growth as a major complaint. The child's antenatal history was normal but was born to third-degree consanguineously married parents. On examination, he had a senile look with prominent eyes, sparse hair with patches of alopecia and visible veins over the scalp, beaked nose, and receded chin [Figure 1]. His voice was high pitched and growth was stunted as parameters were less than the third percentile. Teeth and genitals were normal and intelligence quotient (IQ) was corresponding to the age. Hands were short and clawed with thickening and hardening of the skin over the knuckles with racquet nails. The ribs were prominent and anterior fontanelle was open. There was mottled pigmentation and sclerodermatous changes over the trunk and lower limbs [Figure 2]. Lower limbs also had prominence of knees and slight valgus deformity [Figures 3 and 4].

Bottom Line: He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs.Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome.This interesting case is reported for its rarity.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.

ABSTRACT
Hutchinson - Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic "plucked-bird" appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome. This interesting case is reported for its rarity.

No MeSH data available.


Related in: MedlinePlus