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REVIEW ARTICLE |
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Congenital erythropoietic porphyria: Insight into the molecular basis of the disease |
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Arun Kumar Harith, Sandeep Arora, Seema Kapoor, Bhaskar Mukherjee DOI:10.4103/2319-7250.173147 Congenital Erythropoietic Porphyria (CEP) is a rare inborn error of metabolism charectorised by a deficiency of UROS III enzyme, an important enzyme in the heme biosythetic pathway. It is an autosomal recessive disease and only around 200 cases have been charectorised so far. The clinical presentation, genetic profile and the genotype-phenotype correlation of this disease is complex, and needs to understand completely for proper diagnose of the case and instituting specific therapy. Mutation analysis in the cases of CEP have revealed all types of mutations in the gene including additions, substitutions, insertion and deletions in the gene. Mutations have also been charectorised in the intron-exon junction as well as in the intron regions resulting in truncated gene product and hence a defective enzyme. Mutations in the promoter region too have been charectorised that affect the rate of gene expression. Trans-acting mutations resulting in a phenotype characteristic of CEP have also been recently charectorised. Various study in the molecular basis of the disease have demonstrated that the mutations result in the production of an unstable protein that gets destroyed rapidly resulting a critically low level of the enzyme in the biosystem. Targetting these factors which regulate the rapid degradation of the deformed proteins have been found to improve the clinical profile of the patient and offers potential for future therapy. |
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ORIGINAL ARTICLES |
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Hand, foot and mouth disease in children: A clinico epidemiological study  |
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K Bhumesh Kumar, A Geeta Kiran, B Udaya Kumar DOI:10.4103/2319-7250.173150 Background: Epidemics of hand, foot, and mouth disease (HFMD) are increasing every year globally. The disease now presents an increasing threat to public health worldwide. HFMD is a highly contagious viral infection characterized by a typical maculopapular or vesicular eruptions on the hands and feet and in the oral cavity. It affects predominantly children and/or immunocompromised adults and follows a benign self-limiting course. However, HFMD cases with severe or lethal complications such as encephalitis, meningitis, pulmonary edema, and myocarditis have been reported mostly in children, and also in immunocompromised adults. The common pathogens are coxsackievirus A16, enterovirus 71, and recently coxsackieviruses A6 and A10 have been included. Differences in the course of HFMD have been observed depending on the virus type, age, and immune status.
Aim: This study is to review the clinico epidemiological data for HFMD for early diagnosis and treatment, to prevent the complications and to implement the precautionary measures during outbreaks.
Materials and Methods: A prospective observational study is conducted from August 2013 to January 2014. Consecutive cases clinically diagnosed as HFMD, in the pediatric age group were taken up.
Results: We report the clinico epidemiological study of 50 cases of HFMD, their benign course and recovery among immunocompetent children.
Conclusion: Early accurate diagnosis and treatment of HFMD along with monitoring is crucial to prevent severe complications. Hence, a high index of suspicion is required to diagnose HFMD. |
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Juvenile plantar dermatosis: A barrier disease beyond eczema: An open prospective uncontrolled study in a tertiary care hospital of South India  |
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Hari Kishan Kumar, S Naveen, Keerthi Shankar DOI:10.4103/2319-7250.173158 Background: Juvenile plantar dermatosis (JPD), also known as “wet and dry foot syndrome,” is a skin disorder of the feet that commonly affects children from ages 3–14. JPD is frequently seen in children with eczema, but it is not a requirement for diagnosis. Forefoot eczema (FE) is synonymous with JPD is a condition characterized by dry fissured dermatitis of the plantar surface of the feet.
Aims: To study the clinical patterns of FE and its associated risk factors.
Methods: Twenty-five patients were recorded in the study during the period from April 2013 to March 2014. Fungal scrapings, patch testing, and biopsy for histopathological examination were done wherever required.
Results: In our study, the most common site affected was the plantar surface of the toes in 8 (32%) patients. Hand involvement, with fissuring and soreness of the fingertips and palm, was seen in two patients (8%). Four patients (16%) had a personal history of atopy whereas a family history of atopy was present in 3 (12%). Nine patients (36%) had associated risk factors with reported aggravation of itching with plastic, rubber, or leather footwear, and with prolonged contact with water and detergents. Negative fungal scrapings and culture in all patients ruled out a dermatophyte infection. Patch testing with Indian Standard Series was performed in all patients and was positive in three.
Conclusions: This study concluded FE as a distinctive dermatosis of the first and second decade, predominantly in males, with a multifactorial etiology and confirming the concept of FE as a barrier disease beyond eczema. |
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CASE REPORTS |
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Malignant transformation of lichen planus hypertrophicus into squamous cell carcinoma |
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Aniket Bhagwat Bhole, V Madhu Sudhanan, DK Mishra DOI:10.4103/2319-7250.173152 Neoplastic transformation of lichen planus (LP) is reported, but it's a rare event. Squamous cell carcinoma (SCC) complicating cutaneous LP has an incidence of 0.4%. Average age at the time of diagnosis of SCC in patients of LP is 58 years with a range of 29–78 years. We report an extremely rare case of 17-year-old female patient who developed SCC from lichen planus hypertrophicus (LPH), a variant of LP. Patient presented with LPH over the anterior aspect of both legs since the age of 7 years which is again a pediatric rarity. SCC developed over an anteromedial aspect of left ankle after 10 years when she came to us. Both the diagnoses were histopathologically confirmed. The patient was treated with complete excision of tumor and defect was closed with rotation flap. This report emphasizes that the long-standing hypertrophic form of LP seems to have a considerable propensity for malignant transformation, even in the juvenile age group. Hence, careful vigilance of a longstanding LPH is necessary to allow early detection of a developing SCC. |
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Herpes virus induced bullous lesions in a child with acute leukemia |
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Amitabh Singh, Anirban Mandal, Rachna Seth DOI:10.4103/2319-7250.173157 Immunodeficient children are at a risk for development of atypical or extended infection with viral agents, including herpes virus (herpes simplex and herpes zoster). We report a 5-year-old child with B lineage acute lymphoblastic leukemia on chemotherapy with herpes virus induced atypical skin manifestations. Diagnostic possibilities of early toxic epidermo-necrolysis, staphylococcal scalded skin syndrome, pemphigus vulgaris, bullous pemphigoid, and bullous herpetic infection were kept and management with antibiotics, anti-viral, and supportive measures were ensued. Tzanck smear was negative, but skin swab grew methicillin sensitive Staphylococcus aureus. Herpes viral etiology could be established only after the skin biopsy and histopathological examination showed multinucleated cells with intranuclear inclusion body. There was no other systemic involvement except the asymptomatic elevation of transaminases. She was recovered completely with acyclovir therapy for 14 days. Our case highlights the need for heightened awareness among the clinicians for such atypical presentation of common infections in immunodeficient children, as early and prompt institution of therapy can be lifesaving. Though Tzanck smear is a good modality for the diagnosis of herpetic lesions, it should be supplemented with other diagnostic tests and should not be relied upon in isolation to refute the diagnosis. |
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Incontinentia pigmenti with neurologic and oculodental disorders |
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Jorge Arturo Avina Fierro, Daniel A Hernandez Avina DOI:10.4103/2319-7250.173154 Incontinentia pigmenti is a genodermatosis with X-linked dominant inheritance, characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities with a pattern suggestive of somatic mosaicism. We describe a 21-month-old girl showing characteristic cutaneous findings of incontinentia pigmenti in chronic evolution of hyperpigmented, hypopigmented, and atrophic stages, linear and whorled pattern involving the Blaschko's lines. The patient has history of seizures, and electroencephalography showed epileptiform discharges at temporal lobule, cranial magnetic resonance imaging revealed cerebral dysgenesis, neuronal migration disorder, and hypoplasia of the corpus callosum. She has motor and mental delay with spastic quadriplegia, and ophthalmologic loss of central vision by ischemic optic neuropathy with decreased blood flow to eye's optic nerve. The dermatologic features were confirmed by skin biopsy that showed slight atrophy and some scattered apoptotic cells in the epidermis, epidermal hypopigmentation, and reduced melanocyte number, these histological features confirmed the genodermatosis diagnosis: Bloch-Sulzberger syndrome. |
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Cutaneous pili migrans over the scalp of an infant |
p. 27 |
Rahul Nagar, Sanjay Khare DOI:10.4103/2319-7250.173156 An infant was brought to our outpatient department with a large burrow over his scalp, which was present since 1-month. His father had extracted a thread like structure from the burrow. On scanning microscopic examination, the thread like structure was found to be a terminal body hair. Cutaneous pili migrans (CPM) is a rare skin condition in which a hair shaft or fragment is embedded in the superficial skin. To best of our knowledge this is first reported case of scalp involvement in CPM. |
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Peeling skin in newborn with abdominal distension |
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Sujay Kumar Maitra, Nilay Kanti Das, Niharika Ranjan Lal DOI:10.4103/2319-7250.173145 Epidermolysis bullosa (EB) is a rare hereditary disorder characterized by the formation of blisters following minor trauma. It has been traditionally categorized by the level of basement membrane zone separation into EB simplex, junctional EB, and dystrophic EB. Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with muscular dystrophy and EB with pyloric atresia (PA). Among the subtypes, EB with PA is a rare form of EB. We report here a neonate with EB-PA, who, unfortunately, died on the 2nd day of life. |
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Pretibial dystrophic epidermolysis bullosa pruriginosa: A rare case report in a child with low intelligent quotient |
p. 32 |
B Vijaya, SR Narahari, Pallavi Deka, GV Manjunath DOI:10.4103/2319-7250.173160 Dystrophic epidermolysis bullosa (DEB), a rare form of EB, is characterized by defects in Type VII collagen which is encoded by COL7A1 gene located on chromosome 3p21. A 12-year-old female with low intelligent quotient presented with intensely pruritic multiple violaceous papules which were coalescent at areas on both the shins. Histopathological examination showed epidermis displaying focal thinning. A subepidermal cleft was seen beneath the basement membrane zone. The dermis showed a linear array of keratinous cysts with intervening diffuse lymphohistiocytic infiltrate. Features were suggestive of pretibial DEB. Since it was associated with intense itching, the lesion was termed as pretibial DEB pruriginosa which has combined elements of exclusive pretibial lesions and intense itching. An appropriate clinical history and increased awareness of histopathological features will enable earlier diagnosis and suitable management. |
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Clinical variants of acrodermatitis enteropathica and its co-relation with genetics |
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Sarabjit Kaur, Ankita Sangwan, Priyadarshini Sahu, Surabhi Dayal, Vijay Kumar Jain DOI:10.4103/2319-7250.173153 Acrodermatitis enteropathica (AE) is a rare disorder of zinc deficiency, which manifests as acral and periorificial dermatitis, alopecia, intractable diarrhea, and failure to thrive. It is classified as primary zinc deficiency, genetically based deficiency, and acquired secondary deficiency. We hereby report a case series of genetically based AE in two nonidentical twins of age two months and two siblings of age 3 and 6 months. After reviewing the literature, we have also emphasized the possible role of genetics in the manifestation of AE. |
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Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome |
p. 38 |
K Amrutha Varshini, K Haritha, Chirag A Desai, G Raghurama Rao, A Prasad Chowdary, A Amareswar, P Ramana Murty DOI:10.4103/2319-7250.173155 Juvenile hyaline fibromatosis or infantile systemic hyalinosis is a rare progressive, fatal autosomal recessive disorder characterized by widespread deposition of hyaline. Mutations in capillary morphogenesis gene 2 gene is responsible for both these conditions. They usually present with fleshy, papular lesions, joint contractures, gingival hyperplasia, and persistent diarrhea. We report a 1-year-old girl with typical facial lesions, joint contractures and mild gingival hyperplasia without history of diarrhea and recurrent infections. Skin biopsy revealed deposition of hyaline. |
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Paracetamol suppository induced allergic contact dermatitis |
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Rangaraj Murugaiyan, Karthikeyan Kaliaperumal DOI:10.4103/2319-7250.173148 Paracetamol, a para-aminophenol derivative given systemically can produce allergic reactions and has been reported so far, but allergic reaction due to suppositories is very rare. A 4 month old male child brought by his mother with complaints of raised dark coloured skin lesions over the perianal region for the past 3 days. The child had history of (H/o) of fever for 4 days back for which paracetamol suppository was prescribed following which the child developed the lesion over the perianal region On examination a well defined hyperpigmented plaque of size 5*3 cms extending from anal verge posteriorly and anteriorly upto the beginning of scrotum with lateral extensions from the centre to the gluteals. In our case, the paracetamol suppository used caused an allergic reaction which made the child very irritable and the child developed an allergic contact dermatitis in the site where the suppository was kept and the surrounding area. We report this case because paracetamol suppository as such without preservative causing allergic contact dermatitis has not been reported so far and the treating doctor should keep in mind such type of reactions that might occur when used. |
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Central nervous system involvement in a case of segmental nevus depigmentosus |
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Ishita Majumdar, Devdeep Mukherjee, Sandipan Dhar, Ritabrata Kundu DOI:10.4103/2319-7250.173151 Central nervous system involvement in segmental nevus depigmentosus (SND) is rare. A 7-month-old boy having convulsion and segmental hypopigmented patch in the right inguinal region. Magnetic resonance imaging of brain showed bilateral periventricular white matter hypoplasia with prominent subarachnoid spaces and mild dilation of ventricles with mild left cerebral hemispheric atrophy. Association of SND with seizure and white matter lesion has been rarely reported. |
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Phacomatosis cesioflammea in a 5-week-old infant |
p. 48 |
Khushboo Gupta, Lalit Kumar Gupta, Asit Mittal, AK Khare, Sharad Mehta, Manisha Balai DOI:10.4103/2319-7250.173149 A 5-week-old male infant presented with extensive lesions of nevus flammeus and Mongolian spots affecting the face, trunk, buttocks and extremities. In addition, the child had ocular melanosis and a café-au-lait spot on the trunk. The case is being reported on account of its rarity. |
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Cheilitis granulomatosa (Miescher granulomatous macrocheilitis) with Down syndrome: A rare alliance |
p. 50 |
Balwinder Kaur Brar, BB Mahajan, Nidhi Kamra DOI:10.4103/2319-7250.172458 Melkersson–Rosenthal syndrome comprises of the triad of orofacial swelling, facial paralysis, and fissured tongue. It may present in monosymptomatic form as Meischer granulomatous cheilitis. Herein we report an unusual association of Meischer's cheilitis with Down syndrome. |
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Sclerotherapy for hemangioma of the labial mucosa |
p. 53 |
Srikanth H Srivathsa DOI:10.4103/2319-7250.172459 Hemangiomas are hamartomatous proliferations of vascular origin. The prevalence of these lesions is about 7% of all the benign tumors of the body. The clinical appearance of hemangiomas varies depending on the location of the vascular proliferation. Complications though rare, can occur such as ulceration, bleeding either due to trauma or spontaneously as well a pain, making treatment a necessity. Different treatment modalities have been proposed both for cutaneous and oral hemangiomas. These include the use of intralesional injection of sclerosing agents, corticosteroids, and anti-cancer drugs. Laser therapy, using CO2and neodymium-doped yttrium aluminum garnet, has also been utilized. Larger lesions are treated with embolization and surgical excision. A case of hemangioma of the upper lip and labial mucosa in a 9-year-old girl, treated with an intralesional sclerosing agent, is being reported. |
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Woolly hair with trichoscopic features |
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Kikkeri Narayanshetty Naveen, Suraj R Shetty, H Radha, Sharatchandra B Athaniker, Mahabaleshwar R Gundannanavar DOI:10.4103/2319-7250.172460 Woolly hair is the presence of more or less tightly coiled hair over the scalp of persons of non-African or Negroid background. A 3-year-old girl presented with woolly hair since birth. She had no other systemic abnormality. Trichoscopic examination of the scalp hairs revealed slight variation in the thickness of hair shafts, which was well visualized in an individual plucked hair. Broken hair shafts were visible. We are presenting this case due its sheer rarity and for its trichoscopy findings. Tricoscopy is better alternative than light microscopy for hair shaft abnormality as it allows visualizing multiple hairs without plucking it. |
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Subcutaneous phycomycosis presenting with multiple swellings |
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Sudha Rani Chintagunta, Geetakiran Arakkal, Sudha Vani Damarla, V Akshay Kumar DOI:10.4103/2319-7250.172461 Subcutaneous phycomycosis is a chronic fungal infection caused by Basidiobolus ranarum. Phycomycosis due to B. ranarum is sporadic in nature with a few case reports from South India. The disease usually occurs in children, predominantly affecting males. Diagnosis is based on histopathology and culture. We herewith report a case of subcutaneous phycomycosis in a 12-year-old male child who presented with multiple painless swellings involving the right buttock and thigh which was misdiagnosed and treated with surgical resection and antituberculous therapy with no response by local doctors. Subsequently, we made a diagnosis of subcutaneous phycomycosis, and he was started on itraconazole therapy that has resulted in complete resolution. |
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An unusual guest in the panel of differentials! |
p. 62 |
BS Chandrashekar, Samipa Samir Mukherjee DOI:10.4103/2319-7250.172462 Scabies is a common infestation in children with the varied presentation. Unusual types of clinical presentation of scabies are encountered generally in patients with immunosuppression either due to disease conditions or external medications in the form of immunosuppressant. This poses a diagnostic dilemma and a therapeutic challenge to the treating physician. Reporting of atypical presentation of scabies manifestations widens the horizon and increases the chances of rapid diagnosis and appropriate treatment. We hereby report a case of 6-month-old child of scabies presenting with a cluster of jewel appearances of the lesions masquerading a chronic bullous dermatosis of childhood like picture. |
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Early-onset trichotillomania: A case report with dermoscopic findings |
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Nisha V Parmar, Sheela Kuruvila, Pradeep Thilakan DOI:10.4103/2319-7250.172463 Early-onset trichotillomania (TTM) can be a challenging diagnosis as other common causes of childhood patchy alopecias such as alopecia areata and tinea capitis have to be excluded. We report a 3-year-old boy with TTM and dermoscopic findings. |
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Marshall's syndrome |
p. 68 |
Neha Meena, Prafulla K Sharma, Minakshi Bhardwaj, Sawan Kumar DOI:10.4103/2319-7250.172465 Marshall's syndrome is a form of acquired cutis laxa without systemic involvement. It is characterized by acute onset of multiple erythematous papule and plaques that resolve with postinflammatory elastolysis and cutis laxa. We report a case of 4-year-old boy with the typical features of Marshall's syndrome. |
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Juvenile xanthogranuloma with multiple lesions in central nervous system: A rare case report |
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Priyanka M Jain, PL Chandravathi, Sirisha Rani Siddaiahgari, Vijaya K Tourani DOI:10.4103/2319-7250.172466 Juvenile xanthogranuloma (JXG) preferentially occurs in childhood and is usually benign and limited to the skin. The systemic form is rare and may be associated with severe morbidity and mortality. We describe a three and a half year old boy with disseminated papular skin lesions and neurological signs and symptoms. Diagnostic workup revealed multiple brain lesions. Skin and brain biopsy was suggestive of systemic JXG. Treatment with prednisolone, vinblastine, and methotrexate caused regression of skin and central nervous system (CNS) lesions. However, 6 months after completion of chemotherapy, cutaneous but not CNS lesions relapsed. Few case reports have been published in the past, particularly with multiple lesions in CNS, which as in our case, is an extremely rare finding. |
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LETTERS TO EDITOR |
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Painful geographical tongue in two siblings |
p. 75 |
Surabhi Dayal, Priyadarshini Sahu, Vijay Kumar Jain DOI:10.4103/2319-7250.173159 |
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Eruptive vellus hair cyst |
p. 76 |
K Haritha, Anchala Parthasaradhi, Jigisha Jalu DOI:10.4103/2319-7250.172473 |
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Lipomatous hairy bathing trunk nevus with multiple satellite nevi |
p. 78 |
Shagufta Rather, Atiya Yaseen, Iffat Hassan DOI:10.4103/2319-7250.172474 |
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BOOK REVIEW |
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Color atlas and synopsis of pediatric dermatology |
p. 80 |
HC Thomas Ruzicka |
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