Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype [version 1; peer review: 2 approved]

Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome characterized by multiple café-au-lait macules, cutaneous neurofibromas or plexiform neurofibromas, iris Lisch nodules, axillary and inguinal freckling. Mosaicism in NF1 can either present as a generalized disease, or in a localized (segmental) manner. Mosaic generalized NF1 may have presentations that are similar to generalized NF1 or have a milder phenotype and hence may be under-recognised in clinical practice. We report a nonsense mutation in the NF1 gene in a 55-year old Chinese male with the mosaic generalized phenotype. He reported noticing increasing numbers of skin-colored papules over his face, neck, back and abdomen when he was about 40 years old. From both next-generation and Sanger sequencing data, the variant appeared to be mosaic and present at about 24%. It is in exon 39 and has not been reported in any database or published literature

INTEREST RATE DIFFERENTIALS ON FIXED DEPOSITS IN SINGAPORE BANKS

Bachelor'sBACHELOR OF SOCIAL SCIENCES (HONOURS

Pyoderma gangrenosum: A commonly overlooked ulcerative condition

Background: Pyoderma ga ngrenosum (PG) is a rare, inflammatory, destructive neutrophilic dermatosis, which mimics other ulcerative conditions. Materials and Methods: In a retrospective study based on patients diagnosed with PG over a 3-year period (2010-2013), we evaluated demographics, anatomical sites, number of lesions, subtypes, histopathology, associated conditions, treatment regimens, healing time, and recurrence. Results: Of our five patients, there were three males and two females, age ranging between 19 and 58 years (mean age 38 years). Four had single lesions localized to the lower limbs while one had multiple lesions (more than five) over bilateral hands and legs. Ulcerative subtype was observed in all the patients. One exhibited pathergy. Skin biopsies were done in four patients, revealing dense neutrophilic infiltrates in three cases and leukocytoclastic vasculitis in one. Associated systemic diseases were observed in all patients, four having inflammatory bowel disease and one having both systemic lupus erythematosus and anti-phospholipid syndrome. The patients were all treated with systemic corticosteroids either alone or in combination with immunosuppressants (e.g., azathioprine, mycophenolate mofetil, tacrolimus), and wound dressing. Split-thickness skin graft was done in one patient. Complete healing was achieved in all patients, ranging from one to 3 months after diagnosis. No recurrence was reported. Conclusions: Systemic corticosteroids, either alone or in combination with steroid-sparing agents are the mainstay of treatment. Should family physicians encounter a rapidly progressing ulcer that has poor response to usual wound management, timely referral to dermatology should be made

Laser treatment of infantile hemangiomas

Infantile hemangiomas (IHs) are the most common benign soft tissue tumor of infancy and childhood. Many patients seek early treatment to halt progression of tumor growth and accelerate regression to achieve quick resolution with good cosmetic outcomes. We reviewed literature through PubMed search on the treatment strategies for IH and share our experience in the field of laser treatment of IH. Treatment strategies for IH include both pharmacological, laser, and surgical interventions depending on the stage and severity of the lesion. Various laser beams have been attempted with varying effects and effectiveness. The 595-nm pulsed dye laser therapy has been most widely utilized owing to its great efficacy but minimal adverse effects. It works by targeting oxyhemoglobin chromophore in blood vessels located within the dermis, causing photothermal damage of these target vessels stimulating quick involution without damaging surrounding healthy skin. It is especially useful in treating ulcerated superficial facial hemangiomas that necessitate rapid healing to avoid unsightly scarring. It has a good safety profile but small risk of epidermal burn, blistering, postinflammatory pigment changes, and scarring remains in those with darker skin types treated with higher fluences and short-pulsed duration. Combination treatment with 1064 nm neodymium-doped yttrium aluminum garnet laser, oral propranolol, and even corticosteroids remains an option, especially in treatment of deep, large, and functionally threatening IH. Careful consideration in consultation with the child's parents given the complexities and potential complications surrounding treatment should always be considered. Laser treatment remains an appropriate treatment for rapidly growing IH in exposed locations at early presentation

Solitary mastocytoma arising from a tight infant identification bracelet

Mastocytosis is characterized by a proliferation of mast cells in the skin and extracutaneous organs. Cutaneous mastocytoma is the second most common presentation of mastocytosis in children and has been reported to arise post-trauma. We report herein the second case of solitary mastocytoma resulting from application of an excessively tight infant identification bracelet and the first in the English literature

A clinical series and literature review of the management of inguinal nodal metastases in patients with primary extramammary Paget disease of the scrotum

We describe a series of five patients with extramammary Paget disease of the scrotum with inguinal nodal metastases. These patients underwent combined groin dissection. All patients experienced invasion to the dermis. One patient had invasion of the dartos muscle, another had tumor invading into the skeletal muscle and femoral vein. Four patients had positive Cloquet node involvement on frozen section and formal histology, but only one patient had positive pelvic nodal disease. Another patient with pelvic nodal metastases seen on computed tomography scan had no Cloquet node identified intraoperatively but had positive pelvic nodal metastases. The mean disease-free survival and the overall survival were 28.6 months (range: 2–60 months) and 33.4 months (range: 2–60 months), respectively, for all patients. Three patients developed distant metastases and two patients were disease free to date. No locoregional recurrences were observed. Aggressive lymphadenectomy in selected cases can provide a long-term survival benefit. The use of Cloquet node in the prediction of pelvic nodal disease should be considered. Based on the literature review, sentinel lymph node biopsy can potentially diagnose occult metastases in otherwise nonenlarged nodes