Painful subungal dyskeratotic tumors in incontinentia pigmenti

A subungal lesion on the finger of a young woman

“…IP is caused by mutations in the nuclear factor kappa B (NF‐kB) essential modulator (NEMO) gene, which is important in regulating many immune, inflammatory, and apoptotic processes 4 . Loss of regulation of apoptosis may account for the marked dyskeratosis seen in cutaneous lesions of the verrucous stage of IP as well as STIPs 5 . This patient has recently been found to have a diagnostic deletion in the NEMO gene.…”

Bloch-Sulzberger syndrome: a

“…This may account for the dyskeratosis observed in the histological examination of verrucous lesions in the course of IP. Moreover, the late manifestation of IP, STIP, may clinically resemble keratoacanthoma, which is a pre-malignant condition, or even SCC [14][15][16]. In adolescents and young adults with IP, recurrent cases of SCC have also been described [29,30].…”

“…Moreover, the treatment with 5-fluorouracil injections with a good clinical outcome has also been reported [20]. Finally, therapy with retinoids is also worth considering as reports of resolution of lesions and growth of nails after the systemic treatment with acitretin (25 mg for 2 months) as well as topical application of retinoic acid were reported [16,34,35]. All-trans-retinoic acid (ATRA) regulates synthesis of NFκB components and activates apoptosis of various cell lines.…”

“…Subungual tumors of IPs are usually observed on fingers rather than on toes, and clinically resemble plain warts, epidermoid cysts, fibromas, keratoacanthoma (KA) and squamous cell carcinoma (SCC) [16]. Subungual tumors of IPs tend to destroy the underlying bone of the distal phalanx, due to pressure necrosis.…”

“…Subungual tumors of IPs may be associated with a very intense pain due to fast growth. Although the histological picture of STIPs may cause misdiagnosis as it resembles KA or SCC, radiographic appearance with bone destruction in the distal phalanx without accompanying sclerosis or periosteal reaction may help to make the right diagnosis [16].…”