Multiple palisaded encapsulated neuromas presenting as cobblestoned plaques over palms and oral cavity.

Palisaded encapsulated neuroma (PEN) is a benign circumscribed nerve sheath tumor usually seen as a solitary painless papule on the face in middle-aged adults. We report a 22-year-old male with multiple adolescent-onset PENs distributed extensively, including the oral cavity and palms, contrary to the typical presentations. The lesions formed cobblestoned plaques and were confirmed through a skin biopsy, showing characteristic nodules of wavy spindle cells forming interlacing fascicles with interspersed clefts, and positive staining for specific markers, including markers for axons and perineurium. Notably, this case deviates from the usual presentation, shedding light on atypical manifestations of PEN in a young individual without any features suggestive of a neurocutaneous syndrome or multiple endocrine neoplasia syndrome.

Autologous fat transfer for orbital volume augmentation in sockets with small nonseeing eyes.

OBJECTIVE: End-stage ocular diseases usually end up with atrophic bulbi or phthisis bulbi leading to orbital volume loss which needs to be addressed. We studied the use of autologous fat for volume augmentation of the orbit because it is minimally invasive and allows early rehabilitation with the use of an artificial eye. DESIGN: It was a prospective, interventional study. METHODS: A total of 14 eyes of 14 patients with atrophic bulbi with shrinkage or phthisis bulbi with no perception of light (PL) and aged older than 18 years were included for the study purpose. Painful or inflamed eyes or suspected intraocular tumors were excluded. An autologous fat graft was obtained from the lower abdomen or buttocks and injected into the retrobulbar space using a 20-gauge cannula after adequate peribulbar anesthesia. Outcomes measures were patient satisfaction, change in Hertel's exophthalmometry, vertical and horizontal palpebral aperture, and socket volume. RESULTS: Hertel exophthalmometry showed a significant improvement both with and without an artificial eye from 14.92 ± 2.3 mm to 16.71 ± 1.94 mm (p-value 0.003 without an artificial eye). The vertical palpebral aperture also showed a significant improvement from 5 ± 1.70 mm to 6.71 ± 1.58 mm (p-value < 0.001). There was a significant reduction in the socket volume from 1.22 ml to 0.39 ml (p-value < 0.001). No local or donor site complications were seen. CONCLUSIONS: Autologous fat transfer is a minimally invasive, safe, and effective procedure for orbital volume augmentation in small, nonseeing eyes. The short-term outcome of our study was good in most patients and can be considered for such patients.

Autologous fat grafting for the correction of cicatricial ectropion.

BACKGROUND: Cicatricial ectropion can be corrected by invasive surgical modalities such as full-thickness skin graft, lateral tarsal strip procedure, etc., which are associated with donor site morbidity and additional scars. Use of autologous fat graft (AFG) in treatment of burn scars has previously shown encouraging clinical results as to skin color, texture, and softness. OBJECTIVE: We aim to introduce the use of AFG for the correction of mild to moderate grades of cicatricial ectropion of the lower eyelid in adult patients. METHODS: This was a prospective, interventional, non-comparative, pilot study including 5 patients with a cicatricial ectropion of grade I-III. All these patients underwent a pre-injection workup to assess anatomical outcomes (grade of ectropion, vertical palpebral aperture (VPA), lagophthalmos, and eyelid retraction), functional outcomes (dry eye status) and aesthetic outcome (change of scar color, thickness, pain, and consistency). RESULTS: At 6-months follow-up assessment, all patients had improvement in grade of ectropion, significant improvement in VPA and eyelid retraction, and almost complete resolution of lagophthalmos in all the three patients who had pre-injection lagophthalmos. There was a significant improvement in scar color, thickness and consistency on Visual Analogue Score (VAS) with no donor site or systemic complications after the procedure but mild pain on day 1 post-injection at the donor site CONCLUSION: AFG transfer of cicatricial ectropion not only eludes the need of a invasive surgery but provides satisfactory correction with stable outcome with an overall improvement in texture of the scar and has low risk.

Asian guidelines for condyloma acuminatum.

The present guidelines aim to provide comprehensive information on genital condyloma acuminata, including the epidemiology, clinical features, diagnosis and management. The guidelines provide evidence-based recommendations on the diagnosis, prevention and treatment of genital condyloma acuminata in adults in Asia, including patients with HIV co-infection. METHODOLOGY: A PubMed search was performed, using the keywords "condyloma acuminata", "anal wart", "anogenital wart", "genital wart" and "genital HPV". A total of 3031 results were found in publications during last six years. A careful review of the titles and abstracts was done to find all the studies pertaining to epidemiology, clinical features, diagnosis, treatment and prevention of condyloma acuminata. DIAGNOSIS: Various diagnostic procedures described are: 1. PCR (LE: 2b). 2. Serology (LE: 2b). 3. In-situ hybridization (LE: 3). PREVENTION: 1. Vaccination (LE: 1a): Quadrivalent vaccine reduced the frequency of anogenital warts in both vaccinated and unvaccinated contacts. According to the update Advisory Committee on Immunization Practices (ACIP) recommendations, the following protocol is recommended: (a). HPV vaccination at age 11 or 12 years for both males and females. (b). Catch-up vaccination for all persons through age 26 years. (c). Shared clinical decision-making regarding potential HPV vaccination for persons aged 27-45 years, who are at risk of new HPV infection. 2. Male circumcision (LE: 2a): conflicting evidence. HIV AND CONDYLOMA ACUMINATA: In HIV-affected individuals, the course of HPV is more aggressive, with a greater risk of treatment resistance, increased chances of intraepithelial neoplasia as well as cancers. TREATMENT: Physician administered. 1. Photodynamic therapy (LE: 1a). 2. Laser (LE: 2b). 3. Surgery (LE: 1a). 4. Electrosurgery (LE: 2c). 5. Cryotherapy (LE: 1b). 6. Immunotherapy (LE: 1b). 7. Podophyllin (LE: 1b). Provider administered. 1. Imiquimod 5%(LE: 1a). 2. Podophyllotoxin (LE: 1b). 3. Sinecatechins (LE: 1a). 4. Cidofovir (LE: 3). 5. 5- Fluorouracil (LE: 1a). 6. Interferon (LE: 1a).

Effect of estrogen in malignant melanoma.

BACKGROUND: Melanoma is associated with poor prognosis in its advanced stages. Potential influence of estrogen and its metabolites on melanoma growth has been suggested. AIMS: The objective of this review was to provide an overview on the evidence related to estrogen in malignant melanoma. MATERIALS AND METHODS: Literature search using PubMed, Google Scholar and relevant cross-references of the retrieved articles was performed to review relevant published articles related to estrogen and its effects in malignant melanoma. RESULTS: Effect of estrogen signaling on a tissue largely depends on the relative expression of estrogen receptors (ER) α and ß. Gender differences in melanoma may be explained by the difference in expression of these receptors. ERß is the principal ER in melanoma. DISCUSSION: Although there is uncertainty about role of estrogen in pathogenensis and progression of melanoma, evidence suggests that its growth and metastasis are influenced by estrogen stimulation. Role ER on the proliferation of melanoma cells is well described. CONCLUSION: There is a need of safe and effective therapy for melanoma, especially for advanced cases. After the establishment of specific role of estrogen and its receptor, analysis of specific genetic mutation can be performed for proper utilization of targeted therapies.

Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population.

Tuberous sclerosis complex (TSC) is a multiorgan disorder characterized by formation of hamartomas and broad phenotypic spectrum including seizures, mental retardation, renal dysfunction, skin manifestations and brain tubers. It is inherited in an autosomal dominant pattern, caused due to mutation in either TSC1 or TSC2 genes. Seizures are one of the major presenting symptoms of TSC that helps in early diagnosis. The present study describes the mutation spectrum in TSC1 and TSC2 genes in TSC patients and their association with neurocognitive-behavioral phenotypes. Ninety-eight TSC patients were enrolled for TSC genetic testing after detailed clinical and neurobehavioral assessment. Large genomic rearrangement testing was performed by multiplex ligation-dependent probe amplification (MLPA) technique for all cases and Sanger sequencing was performed for MLPA negative cases. Large rearrangements were identified in approximately 1% in TSC1 and 14.3% in TSC2 genes. The present study observed the presence of duplications in two (2%) cases, both involving TSC2/PKD1 contiguous genes which to the best of our knowledge is reported for the first time. 8.1% of small variants were identified in the TSC1 gene and 85.7% in TSC2 gene, out of which 23 were novel variations and no variants were found in six (6.1%) cases. This study provides a representative picture of the distribution of variants in the TSC1 and TSC2 genes in Indian population along with the detailed assessment of neurological symptoms. This is the largest cohort study from India providing an overview of comprehensive clinical and molecular spectrum.

Dystrophic calcinosis cutis in autosomal recessive dystrophic epidermolysis bullosa.

A 6-year-old girl presented with a history of blistering and scarring in trauma-prone areas. On examination, calcium deposits were seen on bilateral palms and soles within her non-healing wounds. Clinical, genetic and radiological evaluation confirmed the diagnosis of autosomal recessive dystrophic epidermolysis bullosa with dystrophic calcification. The patient was started on topical 10% sodium thiosulfate for her calcinosis cutis. Identification and management of dystrophic calcification are important as it impairs wound healing.

Xanthoma disseminatum with neurological involvement and optic atrophy: improvement with cladribine.

A 9-year-old boy presented with multiple hyperpigmented papules over flexors with polyuria, polydipsia and progressive loss of vision. Histopathology of papule suggested a diagnosis of non-Langerhans cell histiocytosis and systemic evaluation showed central diabetes insipidus and optic atrophy. With a diagnosis of xanthoma disseminatum with significant neurological involvement, he received cladribine therapy and showed significant improvement in both cutaneous and nervous system lesions.