Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

BACKGROUND: Pure mucosal neuroma syndrome (MNS), an autosomal dominant neurocutaneous disorder, is a rare discrete subgroup in multiple endocrine neoplasia (MEN) type 2B, which present without associated endocrinopathies of MEN2B but with typical physical features such as prominent corneal nerves. Case presentation This report describes a 41-year-old patient with complaint of itchy eyes and irritation, presenting with blocked gland orifices in the upper and lower eyelids, light conjunctival hyperemia, a semitransparent neoplasm measuring 2 mm*2 mm on the nasal limbus suggestive of neuromas, and prominent corneal nerves. In vivo confocal microscopy (IVCM) revealed structural alterations-namely a prominent hyperreflective, thickened nerve plexus and a normal endothelium-in both eyes. Testing for SOS1 mutation was positive. This patient may represent a discrete subgroup termed pure mucosal neuroma syndrome (MNS), which presents with the characteristic appearance of MEN2B but without RET gene mutations. CONCLUSION: Prominent corneal nerves have been described in some diseases, such as multiple endocrine neoplasia (MEN) type 1 and type 2A and 2B, congenital ichthyosis, Refsum's disease, leprosy, etc. Ophthalmic assessment including prominent corneal nerves has proven valuable in asymptomatic individuals of MEN2B. Our case illustrates the importance of recognizing the ocular features of MNS, a rare presentation of MEN2B, in order to prevent prophylactic thyroidectomy in these patients for prophylactic thyroidectomy is not mandatory in MNS. However, regular monitoring and genetic counseling are still necessary.

Chicken soup for the skin!

Chicken soup is a worldwide dish used in folk medicine to treat respiratory infections. In ancient and medieval times, it was used to treat leprosy. Anecdotally, it is claimed that chicken soup promotes healthy skin because it is rich in collagen and hyaluronic acid. One clinical study found that consumption of chicken soup by human individuals increased skin elasticity and decreased facial pigmentation. More research is needed to confirm these benefits and better define the role chicken soup consumption might have in promoting healthy, youthful skin.

Clinical and radiological assessment of rhinomaxillary syndrome in Hansen's disease.

Background More than four million people today live with Hansen's disease, and 200,000 new cases are diagnosed every year. Lifetime effects of Hansen's disease manifest as changes to bones of the face, hands and feet, resulting in physical impairment, secondary complications and facial changes that can be detrimental to quality of life, particularly among the elderly. Aims This study aimed to perform a detailed characterization of rhinomaxillary syndrome and its clinical manifestations in older persons treated in the past for Hansen's disease. Methods This was a cross-sectional study to characterize rhinomaxillary syndrome among older persons (age 60+ years) resident at Pedro Fontes Hospital, Cariacica, Espírito Santo, Brazil. Computed tomography images were examined with three-dimensional reconstructions to assess alterations to maxillofacial bones according to criteria for radiological rhinomaxillary syndrome. Participants were examined to assess facial alterations according to criteria for clinical rhinomaxillary syndrome. Results Rhinomaxillary syndrome was investigated in 16 participants (ten females and six males), median age 70 (range 60-89) years, age at diagnosis 20 (6-43) years and time since diagnosis 46 (26-70) years. Four participants fully met radiological rhinomaxillary syndrome criteria, four partially. All participants with full radiological rhinomaxillary syndrome presented with facial changes which met criteria for clinical rhinomaxillary syndrome, including "saddle nose" (loss of nasal dorsal height and shortened length of nose, due to cartilaginous and/or bone collapse), concave middle third of the face with sunken nose, maxillary retrognathia and inverted upper lip. Limitations Clinical histories were incomplete for some participants because records were lost at the hospital over time. Conclusion Until Hansen's disease is eliminated from endemic countries, persons affected will continue to present with rhinomaxillofacial alterations caused by Mycobacterium leprae infection. Clinical protocols for assessment and long-term care need to include otorhinolaryngological evaluation, mainly to prevent secondary complications. When rhinomaxillofacial bone changes are suspected, this evaluation should be supported by computed tomography imaging, if available.

Disabilities in leprosy: an open, retrospective analyses of institutional records

Abstract Background and objectives: Leprosy remains a leading cause of peripheral neuropathy and disability in the world. Primary objective of the study was to determine the incidence of deformities present at a time of diagnosis and new deformities that patients develop over follow up period. Material and methods: An open, retrospective cohort study was performed at a tertiary medical center in western India. Recruitment phase of the study was of 2 years (2009-2010) followed by observation/follow up phase of 7 years till 31st December 2017. New patients with leprosy and released from treatment cases who presented with deformity as defined by WHO disability grade (1998) and subsequently developing new deformities during the follow up period of up to 7 years were included in the study. Results: The study included 200 leprosy patients. Of the total 254 deformities, 168 (66.14%) deformities were noticed at the moment of diagnosis, 20 (7.87%) deformities occurred during the follow up phase. Of all patients, 21.25% had Grade 1 deformity and 6.31% had Grade 2 or more severe deformity. Deformities of hand were most common in 44.48%, followed by feet 39.76%, and face 15.74% respectively. Limitation of study: Mode of inclusion of patient was self-reporting during follow up phase so there is possible under reporting of the disabilities. Conclusion: New deformities continue to develop in certain forms of leprosy even after release from treatment. Long-term & regular follow up of patients who have been released from treatment is required.

Disabilities in leprosy: an open, retrospective analyses of institutional records.

BACKGROUND AND OBJECTIVES: Leprosy remains a leading cause of peripheral neuropathy and disability in the world. Primary objective of the study was to determine the incidence of deformities present at a time of diagnosis and new deformities that patients develop over follow up period. MATERIAL AND METHODS: An open, retrospective cohort study was performed at a tertiary medical center in western India. Recruitment phase of the study was of 2 years (2009-2010) followed by observation/follow up phase of 7 years till 31st December 2017. New patients with leprosy and released from treatment cases who presented with deformity as defined by WHO disability grade (1998) and subsequently developing new deformities during the follow up period of up to 7 years were included in the study. RESULTS: The study included 200 leprosy patients. Of the total 254 deformities, 168 (66.14%) deformities were noticed at the moment of diagnosis, 20 (7.87%) deformities occurred during the follow up phase. Of all patients, 21.25% had Grade 1 deformity and 6.31% had Grade 2 or more severe deformity. Deformities of hand were most common in 44.48%, followed by feet 39.76%, and face 15.74% respectively. LIMITATION OF STUDY: Mode of inclusion of patient was self-reporting during follow up phase so there is possible under reporting of the disabilities. CONCLUSION: New deformities continue to develop in certain forms of leprosy even after release from treatment. Long-term & regular follow up of patients who have been released from treatment is required.

Nonsegmental vitiligo follows Blaschko's lines and embryonic pigmentary segments.

BACKGROUND: Pathogenic mechanism that determines the localization of vitiligo patches and thus a patterned distribution in patients with nonsegmental vitiligo has remained poorly elucidated. A distributional similarity of the vitiligo patches with Blaschko's lines has been documented in patients with segmental vitiligo, both isolated segmental vitiligo and mixed vitiligo but never in cases of nonsegmental vitiligo. METHODS: Distribution of nonsegmental vitiligo patches on face and neck regions was assessed and compared with Blaschko's lines and also with embryonic pigmentary segments on the face. RESULTS: This study has documented distributional similarity of the nonsegmental vitiligo patches on face and neck with Blaschko's lines and the "embryonic pigmentary segments" among 154 (58.6%) cases. Patches around the palpebral and other fissures like periorbital, perinasal, perioral, and periaural were more common. In addition to the vitiligo patches, the spared areas were also found to respect the embryonic segmental outlines and follow the Blaschko's lines. CONCLUSION: Distributional pattern of the individual nonsegmental vitiligo patches along the Blaschko's lines and embryonic pigmentary segments suggests that mosaicism might control the susceptibility to the disease process in a patterned manner. LIMITATION: No genetic testing could be performed to confirm the hypothesis. Evaluation of nonsegmental vitiligo was done only on the face and neck areas.

Oro-facial manifestations in lepromatous leprosy patients in Central India: clinical findings from a cross-sectional study.

OBJECTIVES: To clinically evaluate the oro-facial manifestations in lepromatous leprosy patients undergoing multidrug therapy in Central India. MATERIALS AND METHODS: Two hundred patients from 2 leprosy treatment centers in Central India who satisfied the diagnostic criteria set by the WHO (2006-2010) committee on leprosy were included in the study. To avoid bias, only patients who started the multi-drug treatment regimen less than 1 year ago were included. All the patients were examined for the presence of oral and facial manifestations. To confirm that the oro-facial manifestations were not due to HIV co-infection, serological diagnostic tests including ELISA, Immunocomb, and Tri-dot were performed. RESULTS: Majority of the patients (n = 189) exhibited oral (n = 145) and/or facial (n = 147) manifestations. The most common oral lesions were found to be fissuring and depapillation of the tongue followed by fibrosis and loss of uvula. Among the facial manifestations, facial skin lesions and loss of eyebrows were most prevalent followed by sagging of facial skin and facies leonine. CONCLUSION: The facial manifestations of leprosy are quite common, readily recognizable, and relatively specific to the disease. Thus, the presence of facial manifestations, especially with co-existing oral lesions must prompt the clinician to mandate further investigations to confirm the diagnosis. CLINICAL RELEVANCE: As evidenced by the present study, facial manifestations and oral lesions are an integral part of leprosy. In addition to being a diagnostic parameter, facial manifestations and oral lesions could potentially be used to monitor the disease progression and treatment outcome.