Significance of dermoscopy in early detection of acral basal cell carcinoma in patients with Gorlin-Goltz syndrome

A 47-year-old female patient with Gorlin-Goltz syndrome (GG syndrome, nevoid basal-cell carcinoma syndrome) presented to the Department again for the treatment of newly developed foci of basal cell carcinoma (BCC) of the skin. The diagnosis was made at the Department of Dermatology in Gdańsk in 2011 on the basis of clinical criteria, such as multiple BCCs, palmar and plantar pits, hypertelorism, cerebral falx calcifications, mandibular cysts. The patient was previously treated by surgery, cryosurgery, electrosurgery and topically with 5-fluorouracil.
In addition to the palmar pits characteristic of Gorlin-Goltz syndrome (fig. 1 A), the patient’s physical examination revealed small black nodules on the palmar surfaces, non-specific in naked-eye assessment. Dermoscopic examination demonstrated the presence of serpentine vessels and blue clods typical of pigmented BCC (figs. 1 B, C). The lesions were surgically excised, confirming the dermoscopic diagnosis (fig. 2 A, B).
Gorlin-Goltz syndrome (1894) is a rare genetically conditioned disease resulting from mutations in the 9q22.3 locus of the PTCH1 gene. The disease course involves multiple abnormalities of the skin, eyes, central nervous system, skeletal and endocrine systems. The most common cutaneous pathologies include multiple BCC and palmar and plantar pits. The presence of two or more palmar and/or plantar pits is one of the major criteria for the diagnosis of GG syndrome [1]. The pits are shallow asymptomatic epidermal depressions with diameters in the 1–3 mm range, distributed in a random pattern along the palmar/plantar creases or between them. In addition to the palmar and plantar areas, lesions may also occur on the lateral surfaces of hands and feet, in the interdigital areas and on the dorsal digital surfaces. Lesion clusters or lesions with larger diameters are less commonly observed. The bottoms of the pits can be flesh-coloured, pale pink or red. They can also be darker in colour following the penetration of exogenous pigments and contaminants. The number of pits varies across the patient population and increases with age [2].
Histopathologically, the pits present as sharply marginated areas of loss or thinning of the stratum corneum, with prominent rete ridges and basal cell hyperplasia, and they may be BCC precursors [2]. According to one hypothesis, the fact that the pits may turn into cancer is attributable to an increased exposure to irritants and carcinogens due to...


View full text...