PXE is a rare hereditary disorder characterized by generalized fragmentation and progressive calcification of elastic tissue predominantly in the dermis, blood vessels and Bruch membrane of the eye affecting skin, eye, cardiovascular and digestive system [1].

A 26-year-old male presented with insidious onset gradually progressive asymptomatic lesions on lateral aspect of neck and axilla from last 5 years. Family history was non-contributory. Physical examination showed yellowish papules arranged in linear and reticulate pattern that tend to coalesce into confluent plaques on both side of neck and axilla (Fig. 1a). Systemic examination was unremarkable. Fundus examination was normal. 2D-echocardiography showed normal cardiac assessment. Stool for occult blood examination was normal.

Figure 1: (a) Yellowish papules and linear plaques present in a reticulate manner on lateral side of neck. (b) Multiple yellowish areas in reticulate pattern (yellow arrow) alternating with multiple linear purplish areas (purple arrow). (DermLite DL4, 10X, Polarised). (c) Yellowish linear areas were devoid of hair follicles (yellow arrow). (DermLite DL4, 10X, Non-Polarised). (d) Histopathologic findings of the section of biopsy specimen (Hematoxylin and eosin stain; 40X). Brown arrow shows mild perivascular chronic inflammatory infiltrate in upper dermis. Black arrow shows fragmented and faintly basophilic elastotic material in lower dermis.

Polarised light dermoscopy at 10X magnification (DermLite DL4) of skin lesions showed multiple linear yellowish area arranged in reticulate pattern alternating with multiple linear red to purplish areas (Fig. 1b). The yellowish linear areas were devoid of hair follicles (Dermalite DL4, non-polarised) (Fig. 1c). Histopathology shows accumulation of fragmented and faintly basophilic elastotic material in the mid and lower dermis (Fig. 1d). On the basis of clinical findings, histopathology and dermoscopy examination, final diagnosis of pseudoxanthoma elasticum (PXE) was made.

The yellowish papules are correspond to the dermal elastolysis and mineralisation of fragmented elastic fibres. The red to purplish reticulate background correspond to the rearranged dilated superficial vessels due to elastolysis on dermoscopy [2]. To conclude dermoscopy is a useful aid to clinical examination for a non-invasive, prompt diagnosis of PXE for early detection and intervention.

REFERENCES

1. Singh A, Bhari N, Bhari A. BMJ Case Rep. 2017:2017:bcr2017221365.

2. Kawashima S, Togawa Y, Miyachi H, Matsue H. Dermoscopic features of pseudoxanthoma elasticum. Clin Exp Dermatol. 2018;43:175-9.