Twelve cases of pachyonychia congenita were reviewed. The mode of inheritance was autosomal dominant. The clinical features of these patients included thickened nails, hyperkeratosis of the palms and soles, thinning of hair or alopecia, painful bullae or ulcerations of the palms and soles, leukokeratosis oris, verrucous lesions of the extremities, hyperhidrosis, premature eruption of teeth, paronychial infections, epidermal cysts with milia, and corneal dyskeratosis at times associated with cataracts. Biopsy from the plantar lesions usually revealed marked hyperkeratosis, acanthosis, moderate hypergranulosis, and minimal dermal inflammatory infiltration. Treatment with keratolytic agents and lubricants is indicated to areas of palmar and plantar hyperkeratosis but usually produces only transient benefit. Squamous cell carcinoma developed in one of the patients over the site of chronic plantar ulcerations. Areas of chronic bullous formation or ulceration should be observed for possible skin malignancy.

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Nine cases of Olmsted syndrome have been reported in the world literature. In this syndrome, keratoderma usually starts during infancy on the palms and soles when the baby starts to use the feet for walking and the hands for grasping. Within weeks or months, there is progressive spread of solid, symmetrical, thick hyperkeratotic keratoderma to both palms and soles, surrounded by erythematous margins. Contraction of fingers and deep fissuring of the feet are common complications. Symmetrical, yellow-brown hyperkeratotic plaques and papules are also observed around body orifices such as the mouth, nares, inguinal region, and perianal and gluteal areas. Other clinical manifestations have been reported, including diffuse alopecia, thin nails, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, exaggerated keratosis pilaris, and large verrucous plaques in the axillae. In the differential diagnosis, other keratoderma and hyperkeratotic syndromes should be considered.

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Background Primary lacrimal sac melanoma is an extremely rare condition with fewer than 50 cases reported so far. Clinically, its symptoms resemble those of dacryocystitis, leading to frequent misdiagnosis. During diagnosis, imaging examination is often performed to differentiate tumors from inflammation. In this report, we present a case of primary lacrimal sac melanoma and summarize the CT and MRI characteristics of lacrimal sac melanoma. Case presentation We report a 50-year-old female patient who had undergone a dacryocystectomy for the left lacrimal sac mass. Postoperative pathological examination confirmed the presence of primary malignant melanoma. Three months later, a lump in the lacrimal sac area was found. The patient underwent CT and MR examinations. CT scan demonstrated a partially well-defined soft mass in the fossa of left lacrimal sac extending into the nasolacrimal duct and anterior ethmoid sinus. MRI revealed an intermediate signal intensity on T1 and iso-or hyper-signal on T2 weighted images. Histopathological examination on biopsy confirmed recurrence of primary lacrimal sac melanoma. Discussion and conclusions None has described the CT and MR findings of primary lacrimal sac melanoma so far. Typically, MR images show hyperintensity signal on T1-weighted images and hypointense signal on T2-weighted images owing to the paramagnetic properties of melanin. In contrast to previous reports and the present case, most cases do not present these typical signals. Thus, reporting such radiological findings is important to create awareness on variant images of primary lacrimal sac melanoma. This will reduce misdiagnosis and mistreatment.