Squamous cell carcinoma in a patient with Netherton's syndrome

Abstract

A 29-year-old white woman with a history of Netherton's syndrome presented with two squamous cell carcinomas on the right dorsal hand and the left upper arm. She reported a 2-year history of these lesions, which were originally treated as warts. She denied excessive sun exposure, immunosuppressive therapy, or a previous history of skin cancer. Her past medical history included acute renal failure, multiple urinary tract infections, meningitis, and recurrent otitis media as a child. In addition, she had an ovarian abscess at 4 years of age with resulting salpingo-oophorectomy. She also reported a history of severe myopia, glaucoma, and multiple ocular infections with a resulting corneal scar. In addition to atopic dermatitis, she had a 10-year history of psoriasis. Her medications included topical steroids and emollients for atopic dermatitis and psoriasis, in addition to Timolol ophthalmic drops for glaucoma. Her family history was significant for a 22-year-old sister with Netherton's syndrome (Fig. 1). She denied any history of skin cancer in her sister or other members of her family. On physical examination, she had an exfoliative erythroderma, madarosis, and diffuse patchy alopecia. In the bilateral axilla, she had well-defined pink scaly plaques which were confirmed as psoriasis by biopsy. On the right dorsal hand, she had a 1.5 x 1.0 cm pink verrucous plaque (Fig. 2). On the left upper arm, she had a 1.5 x 0.8 cm pink scaly plaque. Biopsies of both sites confirmed squamous cell carcinomas. Both lesions were completely excised with 4 mm margins.

Multiple cutaneous squamous cell carcinomas in a patient with interferon receptor 2 (IFN R2) deficiency

“…Several underlying pathological conditions can associate with cutaneous SCC in children. They are classified into two discrete groups, the Mendelian genetic traits such as EV,7 xeroderma pigmentosum (XP),10–14 Neterton’s syndrome,15 epidermolysis bullosa16 or congenital hemidysplasia with ichthyosiform naevus and limb defect syndrome,17 and the acquired conditions such as scleroderma18 or naevus sebaceous of Jadassohn 19. XP patients <20 years old had an estimated 2000-fold increase in the frequency of basal cell and squamous cell carcinoma of the skin11 and at least 240 cases have been reported 10–14.…”

Acute pancreatitis in a young girl with the Netherton syndrome

“…Severe complications such as acute bilateral renal vein thrombosis [15], cerebral infarction [16], and squamous cell carcinoma have been noted [17]. We have not been able to find any previous reported association with acute pancreatitis in this syndrome.…”

Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy

“…Hair abnormalities are remarkably variable: classically, hair is short, brittle, spiky, sparse and slow-to-grow, but can have a normal appearance. Severe complications include human papillomaviruses infections (Folster-Holst et al, 1999;Weber et al, 2001) and squamous cell carcinoma (Hintner et al, 1980;Saghari et al, 2002;Krasagakis et al, 2003;Hatano et al, 2005;Li et al, 2011;Natsuga et al, 2011;van der Voort and Prens, 2013), which question whether NS predisposes to HPV infections or to epithelial skin cancers.…”