Fibroblasts of an Acrogeria Patient Produce Normal Amounts of Type I and III Collagen

Abstract

An 11-year-old patient with clinically typical acrogeria is presented. She had wrinkled ‘old-appearing’ acral skin, thin skin on the whole integument, grooved tip of nose, mottled hyperpigmentation of fold regions and thickened dystrophic toe nails. Histologically, the epidermis was flattened, dermis thinned and the connective tissue densely packed with very few cellular elements. Electron microscopic examination revealed partially abnormal collagen fibers with varying caliber, degenerated elastic fibers and dystrophic fibroblasts. The patient’s fibroblasts produced normal amounts of apparently normal type I and III collagen as analyzed after radioactive labeling. Also, the levels of cytoplasmic mRNA for both of these collagens were similar in acrogeria and control cells.

Gottron's acrogeria and sarcoidosis

“…The characteristic symptoms are summarized up in Tables 1 and 2. Anonychia and onychodystrophia are also frequentIy found in acrogeric patients [1,2,3,5,7,8,11,16,23,33]. From the history our patient might be identical with the one described by Butenandt et al [8] in 1975, but neither he nor his family can remember being told of the diagnosis, and the records have been destroyed.…”

“…The most common symptom is the cutaneous atrophy, with lack of subcutaneous fat and "cigarette-paper-like" wrinkling at the distal extremities and tip of nose. In 40% of cases the entire integumentary system is involved, although to a lesser extent, clearly showing the subcutaneous veins [2,5,7,12,13,14,15,22,24,25,29,35]. Due to the missing subcutaneous fat 389 in the face and the thin, sharp nose the affected persons look older than they are.…”

“…Due to the missing subcutaneous fat 389 in the face and the thin, sharp nose the affected persons look older than they are. Mottled hyperpigmentation of the skin is found in one-third of the patients [7,9,11,14,15,17,18,19,20,24,25,31,33]. About 30% complain of increased bruising, which may be due to increased vulnerability of the vessels caused by the missing protection of the subcutis.…”

“…In three patients the dermal content of collagen type III, which is reduced in Ehlers-Danlos syndrome type IV, was measured. In two cases no collagen type III was detected [6,29]; in one case the content was normal [7]. In one patient the amount of glycosaminoglycan and hydroxyprolin in the affected skin areas was decreased without an increase in renal elimination [21].…”

A Case of Acrogeria Associated with Late-Onset Focal Dermal Elastosis

“…One is the acrogeria (Gottron type) caused by type III collagen deficiency and considered to be a variant of vascular Ehlers-Danlos syndrome [3. 4], Second-type acrogeria lacks general cutaneous changes but affects the hands and has a normal content of type III collagen [5]. The third group has a degree of overlap with progeria, metageria and W erners syndrome 16 -9 ] and is considered to be one of the progeroid syndromes [10].…”