PREMATURE AGING SYNDROMES AND POIKILODERMAS
Bernard A. Cohen
The study of rare progeroid syndromes has led to better under-standing of the normal aging process. Distinct progeroid disorders are
This child also had short stature and photosensitivity. Courtesy Sarah Chamlin, MD.
differentiated by their time courses, associated clinical findings, and biochemical and genetic markers (Table 63.9). Inherited congenital and childhood poikilodermas, including Kindler syndrome (see Ch. 32), can also demonstrate features associated with aging and may be considered in the differential diagnosis of progeroid syndromes (Fig. 63.12).
Fig. 63.12 Facial poikilo derma in a 3-year-old boy with Rothmund– Thomson syndrome.
Table 63.9 Progeroid syndromes and inherited poikilodermas. Disorders featuring poikiloderma are shaded. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis results from heterozygous mutations in FAM111B. Variants of cutis laxa and Ehlers–Danlos syndrome with progeroid features are discussed in Chapter 97 and ataxia–telangiectasia is covered in Chapter 60. Other rare progeroid conditions include Wiedemann–Rautenstrauch (neonatal progeroid), Hallermann–Streiff, Lenz–Majewski, Fontaine progeroid, Marbach–Rustad progeroid, Ruijs–Aalfs, and SHORT (short stature, hyperextensibility, hernia, ocular depression, Reiger anomaly [dysgenesis of cornea and iris], and teething delay) syndromes (www.ncbi.nlm.nih.gov/omim). AD, autosomal dominant; AR, autosomal recessive; ANAPC1, anaphase promoting complex subunit 1; BANF1, barrier-to-autointegration factor 1; FERMT1, fermitin family homolog 1; MDPL, mandibular hypoplasia, deafness, progeroid features, and lipodystrophy; PDGFRB, platelet-derived growth factor receptor β gene; POLD1, DNA polymerase δ 1; PPK, palmoplantar keratoderma; SCC, squamous cell carcinoma; USB1, U6 snRNA biogenesis 1.