A Case of Hutchinson-Gilford Progeria Syndrome Mimicking Scleredema in Early Infancy

Abstract

We report a case of Hutchinson-Gilford progeria syndrome (HGPS). The patient showed the characteristics of scleredema at the age of 2.5 months but developed all the manifestations of HGPS gradually until 10 months old. The possibility of development of HGPS should by considered in any case of scleredema at birth or in early infancy.

LMNA Mutations Induce a Non-Inflammatory Fibrosis and a Brown Fat-Like Dystrophy of Enlarged Cervical Adipose Tissue

“…17,19 Of note, vascular and skin tissues from patients with LMNA-linked progeria, characterized by defects in prelamin A maturation, demonstrated fibrotic features. 31,32 In addition, human p.L59R LMNA-mutated fibroblasts did not demonstrate the physiologic decrease in collagen production during aging. 33 Therefore, LMNA mutations and/or altered prelamin A maturation could lead to altered extracellular matrix production, which could participate in adipose tissue dystrophy.…”

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant

“…Thinning and tightness of the skin are found over the lower trunk, proximal thighs and buttocks in ca. 33% of patients [5,9,11,13,16,17,18]. The face is very characteristic with craniofacial disproportion, frontal bossing, prominent scalp veins, low-set ears with absent ear lobes, prominent eyes, a thin and fine nose, mid-facial cyanosis, microstomia with thin lips and scalp alopecia, which gives these patients the so-called 'plucked bird' appearance.…”

Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease

“…Consistent progressive clinical findings include atrophic epidermis, dermal fibrosis (scleroderma-like with thickening, hyalinization and disorganization of collagen bundles), thin or absent hypodermis and a complete loss of skin appendages or decrease in number of hair follicles and sebaceous glands (Ackerman and Gilbert-Barness, 2002;DeBusk, 1972;Erdem et al, 1994;Gillar et al, 1991;Hutchison et al, 2001;Jansen and Romiti, 2000;Rodriguez et al, 1999;Sevenants et al, 2005;Stables and Morley, 1994;Plasilova et al, 2004) (the GENEReviews' database at www.geneclinics.org). Hypoplastic eccrine glands and spotty skin pigmentation have also been reported (DeBusk, 1972;Jansen and Romiti, 2000).…”