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Terminal osseous dysplasia with pigmentary defects (TODPD) is an extremely rare X-linked dominant syndrome characterized by pigmentary skin defects, cutaneous digital fibromas and skeletal anomalies. Recent studies have identified that TODPD is caused by a unique variant, c.5217G>A (p.Val1724_Thr1739del), in the FLNA gene, which could in turn lead to the elastic fiber abnormality in TODPD. We herein present a rare case of TODPD in a Chinese girl due to an FLNA c.5217G>A heterozygous mutation, but the skin lesion biopsy showed that the elastic fibers were within normal limits in the dermis. A published work review of TODPD with the FLNA mutation from various origins is also included in this paper. To the best of our knowledge, this is the first report on TODPD with the FLNA mutation in China., (© 2020 Japanese Dermatological Association.)

Subungual melanoma (SUM) is rare and represents approximately 2-3% and 20% of all cutaneous melanomas in Caucasians and Asians, respectively. Amputation has usually been performed for invasive SUM; however, not all invasive SUMs invade or attach to the distal phalanx. To investigate the possibility of non-amputative surgery for patients with invasive SUM, the distances between the deepest base of the melanoma cells and the bony surface in the surgical specimens of invasive SUM were measured. Thirty surgical specimens of invasive SUM were retrospectively reviewed. The contents of the specimens were as follows: 14 first toes, 10 thumbs, three second fingers, two third fingers, and one fifth finger. Four specimens showed bone invasion, and the tumor was attached to the bone in four specimens. The tumor-to-bone distance exceeded 0.9 mm in all the specimens with thicknesses <4 mm. In the non-ulcerated SUMs (nine specimens), only one SUM specimen showed bone attachment. There was a higher likelihood of bone attachment or invasion when tumor thickness (TT) exceeded 4 mm (Pearson chi-square test, P = 0.009; Fisher exact test, P = 0.004; student t test, 0.033). Univariate and multivariate analysis also revealed that thick TT had a statistically significant affect (odds ratio 1.807 and 1.865, 95% CI 1.11-3.01 and 1.11-3.13, P = 0.023 and 0.018). Non-amputative surgery may be possible for SUM tumors that are of intermediate-thickness. However, there has been little evidence demonstrating survival with non-amputative surgery for invasive SUM. A large, randomized, prospective clinical study is required to address this issue., (© 2014 Japanese Dermatological Association.)

We report a case of hyperkeratotic variant of porokeratosis Mibelli with dermal amyloid deposits. A 66-year-old man presented with multiple brownish keratotic lesions on the lower extremities, a verrucous nodule on the third toe of the left foot and brownish verrucous plaques on the buttocks for several years. Histopathological examination of the hyperkeratotic plaque in the right gluteal region revealed extreme hyperkeratosis and cornoid lamella. In the papillary dermis, there were prominent eosinophilic amorphous materials which were positive to Dylon staining. Treatment with oral etretinate resulted in a remission of the skin lesions in this case.

Congenital hyperpigmentation in the acro-genital area and simultaneous occurrence of ganglioneuroma in the esophagus have yet to be reported. Herein, we report a 4-month-old girl presenting with feeding difficulty by esophageal ganglioneuroma and symmetrically distributed brown pigmented patches on the lips, axillae, dorsa of fingers and toes, and genital area. Although the esophageal stricture was resolved by surgical removal of ganglioneuroma, her skin manifestations remained for over 2 years.

Chondrolipoma is a rare benign mesenchymoma composed of mature cartilage and adipose tissue. We present a 71-year-old man with a chondrolipoma of the great toe. On histological examination, the tumor contained both mature fat cells and chondrocytes. To our knowledge, this is the first report of a chondrolipoma on the toe. This case contributes to better awareness of an extremely rare lesion of the distal lower limb.

We report a case of Churg-Strauss syndrome (CSS) with necrosis of the fingers and toes and liver infarction. A 59-year-old man with asthma suddenly noticed that his fingers and toes felt unusually cold. This condition worsened progressively, and some digits became necrotic within several weeks. Laboratory studies revealed hypereosinophilia and an extremely elevated serum level of IgE. Digital subtraction angiography of the extremities revealed extensive irregular narrowing of small and medium-sized arteries in the extremities. Abdominal computed tomography (CT) revealed an area of low density at the periphery of the right lobe of the liver. Angiography revealed irregular narrowing of small arteries that corresponded to the ischemic area. A nerve conduction study suggested sensory nerve neuropathy. The preceding asthma, acute onset of digital necrosis, liver infarction, neuropathy, and hypereosinophilia strongly suggested a diagnosis of CSS. The patient was treated with 40 mg of prednisolone and 120 micro g of intravenous prostaglandin E1 daily, and all the digits that had turned black and necrotic were amputated. After the amputation, the dose of prednisolone was gradually reduced, and no new lesions appeared on the skin or in the liver. The rare possible complications of CSS, including necrosis of digits and liver infarction, should not be ignored.

Metaplastic synovial cyst of the skin is a recently recognized entity characterized by an intradermal nodule that usually occurs at the site of previous surgical trauma. Histologically, the lesion demonstrates a cystic structure with villous-like projections and a lining resembling hyperplastic synovium. We have studied two patients with rheumatoid arthritis, aged 46 and 55 years, who presented with cystic nodules localized on the thumb and great toes, respectively, without any history of previous trauma or surgical procedures performed in the areas. The presence of vimentin and CD 68 positivity of the cells lining the cyst walls supports the similarities between normal and metaplastic synovium. We hypothesize that constant pressure on the great toe, repeated manipulation of the finger, and chronic inflammation around the affected joints may have played roles in the pathogenesis of the lesions in our patients.

Pachydermoperiostosis (PDP), a rare genodermatosis, occurred in a 38-year-old Indian male. He presented with progressive thickening of the skin on the face and scalp of 15 years duration. Widening of his wrists and ankles and broadening of the fingers and toes had also developed since then. He was born of a consanguineous marriage and had no family history of a similar disorder. He had the typical findings of complete form of PDP including cutis verticis gyrata, coarse facial features, clubbing of the digits in the skin, and periostosis and cortical thickening at the distal ends of long bones of the extremities and small bones of the hands and feet. PDP has two different forms--primary and secondary. These two entities are differentiated by family history and presence or absence of a primary lesion, usually in the lungs. Clinically, in secondary PDP, the cutaneous findings (pachydermia, seborrhoea, oiliness) are less severe than primary PDP; osteoarthropathy is more severe and painful in secondary PDP, especially with congenital heart disease. The present case was suffering from primary PDP that had expressed itself in its complete form.

Subungual osteochondroma is a rare form of benign bone tumor characterized by distinctive histopathological and radiological findings. The major clinical manifestation is a firm mass with tenderness. It must be differentiated from other similar diseases such as subungual exostosis, glomus tumor, and enchondroma to determine the proper surgical procedure. A 13-year-old boy had a history of a growing tender mass on the right third toe which recurred after simple excision. He was treated by careful dissection and total excision under local anesthesia. Histologic findings included a trabecular bone formation covered with hyaline cartilage cap and were compatible with osteochondroma.

A case report of twenty-nail dystrophy in a 21-year-old woman is presented. All her finger nails were affected with numerous small superficial pits. The histological findings showed the focal spongiotic change in the nail matrix reflecting the clinical appearance of the nail plate surface.

A simple new method for the treatment of ingrown toe-nails was devised and applied to 33 toe-nails in 22 patients. The entire nail surface, except for the margin, was abraded until the nail became flexible with a Schreu's skin grinder equipped with a steel bar. When there was infection or granulation of the nail wall, the imbedded nail corner was trimmed before abrasion. The patients underwent additional treatments when one treatment was not enough to achieve cure or when discomfort appeared, which was the first symptom of recurrence. The average number and duration of treatments was 2.9 times and 16 months, respectively. Relief from pain occurred in all patients soon after abrasion was performed. Recurrence of infection and granulation was observed in only one patient. Five patients (23%) remained problem-free for more than one year without any additional treatment, because their incurved nail was gradually improved in shape by repetition of this procedure. This therapy was particularly effective in patients with severely incurved nails.