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Assessing the Symptoms and Prognosis of Hutchinson-Gilford Progeria Syndrome

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HGPS (Hutchinson-Gilford Progeria syndrome) is a rare, autosomal dominant inherited disease with an estimated incidence of 1:4 million live births. It was first discovered by Jonathan Hutchinson in 1886. In 1904, Hastings Gilford coined the term progeria, derived from the Greek pro=early and geras=old.

Symptoms and Prognosis for People with Hutchinson-Gilford Progeria

In most cases, clinical manifestations are evident after the first year of life, with an average age at diagnosis of 2.9 years. The appearance of infants with Hutchinson-Gilford Progeria at birth is normal. However, a major decrease in growth occurs during the first year. They present craniofacial dysmorphism with prominent eyes, hooked nose, thin lips, abnormal dentition, micrognathia, prominent ears with absence of earlobes, alopecia, prominent cranial veins, loss of subcutaneous fat, joint stiffness, bone changes and skin changes, which are apparent during the second to third year of life. Death usually occurs in adolescence, secondary to cardiovascular complications. In 2003, Ericksson et al identified mutations in the lamina A gene in 20 of 23 patients with HGPS. Sandre-Giovannoli et al identified mutations in the same gene in 2 patients with Hutchinson-Gilford Progeria.

A 2-year old male patient of mixed race and urban origin was sent to pediatric endocrinology because of short stature, alopecia and dry skin.

He is the product of a second pregnancy complicated by threatened abortion in the first trimester and polyhydramnios without fetal morphological alterations in the second trimester. Delivery was by cesarean section at 39 weeks of gestational age. Birth weight and height were 3,400g and 52cm, respectively. The Apgar test score was 7/7 and the physical examination was normal. It was clear at a later date that he had Hutchinson-Gilford Progeria.

A few days after birth, dry, stiff skin with lesions on the trunk and extremities was observed, and from 2 months onwards, growth retardation (weight and height) and mild hypotonia.

In the physical examination at 2 years the following characteristics were observed in the infant later diagnosed with Hutchinson-Gilford Progeria: weight of 8kg (<3%), height of 77cm (<3%) and a body mass index of less than 3%. Craniofacial features were disproportionate head, micrognathia, prominent scalp veins, generalized alopecia, prominent eyes, sparse eyelashes and eyebrows, pointed and sculpted nose tip, thin lips, prominent ears, absence of earlobes, high-pitched voice, delayed teething. The chest was pyriform; the exploration showed rhythmic heart sounds without murmurs and good air intake in both lung fields. The skin was thin, tight, dry, wrinkled, with hyperpigmented lesions and had loss of subcutaneous fat. The extremities were thin with riding posture and joint stiffness (fig. 1). Neurological and psychomotor developmental examinations were normal. Phenotype progression is evident in figure 2. In laboratory studies, a skin biopsy was performed with evidence of scleroderma. The rest of the studies were normal (duodenal biopsy, digestive endoscopy, thyroid profile, serum electrolytes, renal function tests, karyotype, echocardiogram, abdominal ultrasound, chest X-ray, blood glucose and carpogram). The clinical diagnosis of Hutchinson-Gilford Progeria was reached. Molecular confirmation was made by finding a mutation defined as c.1824 C>T (p. Gly608Gly) in exon 11 of the LMNA gene.

Here is the phenotype of a toddler with Hutchinson-Gilford Progeria at 2 years of age. A) Low size at 24 months of age. B, C and D) Prominent alopecia and cranial vasculature, absence of ear lobes. E) Sclerotic skin. F) Drummer stick fingers. G) Prominent knees.

Understanding the Progression of Hutchinson-Gilford Progeria

Phenotype at 2 years of age. A) Low size at 24 months of age. B, C and D) Prominent alopecia and cranial vasculature, absence of ear lobes. E) Sclerotic skin. F) Drummer stick fingers. G) Prominent knees.

Phenotype progression. A) 2 months. B) 4 months. C) 9 months. D) 15 months. E) 24 months F) 29 months.

HGPS belongs to a group of disorders associated to mutations in the LMNA gene or “laminopathies”, including Emery-Dreyfuss muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2B, waist muscular dystrophy type 1B and Dunnigan type partial family lipodystrophy.

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