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Background: Mastocytosis is characterized by clonal proliferation of mast cells in various organs and can have isolated cutaneous or systemic involvement. Childhood-onset mastocytosis (COM) is usually cutaneous and regresses spontaneously, while adult-onset mastocytosis (AOM) is often persistent with systemic involvement. There is limited data on COM from India. Objective: To elucidate the clinicopathological profile of COM. Methods: We conducted a retrospective chart review of all the patients with histologically proven COM (≤16 years), presenting over 11 years (January 2009 to December 2019) to the Dermatology Department. We compiled the demographic data, clinical characteristics (morphology, extent, distribution), laboratory investigations, histopathology findings, imaging (ultrasound abdomen), c-KIT mutation results, where available, and other associated abnormalities, and grouped them according to the WHO classification for mastocytosis. Results: Among the 66 patients with COM (M: F–1.6:1), 89.4% had onset before 2 years of age. The subtypes were: maculopapular cutaneous mastocytosis (MPCM: 44, 66.7%); mastocytoma of the skin (MOS: 19, 28.8%); diffuse cutaneous mastocytosis (DCM: 2, 3%) and indolent systemic mastocytosis (ISM: 1, 1.5%). Blistering was observed in 29 (43.9%) and Darier sign was elicited in 47 (71.2%) patients. Serum tryptase was elevated in 9/21 (42.9%) patients, but none had systemic mastocytosis. Three patients had c-KIT mutations (two in exon 8 and one in exon 17). Most patients were managed symptomatically and the patient with ISM improved with imatinib. Conclusion: MPCM is the most common variant of COM and most patients had a disease onset before 2 years. Overall, COM had a good prognosis with rare systemic involvement, mitigating the need for extensive evaluation routinely in children.

Leishmaniasis is endemic in the Indian subcontinent with predominance of visceral leishmaniasis (VL) due to Leishmania donovani. Cutaneous leishmaniasis (CL) is uncommon, and mucocutaneous leishmaniasis (MCL) is rarely reported in this region. Recent reports reveal a changing epidemiology and atypical manifestations. A retrospective study of 52 suspected cases with cutaneous and mucosal involvement seen from January 2008 to December 2018 in a tertiary care setting in a non-endemic state in southern India is reported. Twelve patients were confirmed to have leishmaniasis; seven had MCL, two had CL, and three had post-kala-azar dermal leishmaniasis (PKDL). All cases were male, with a median age of 41.5 years (interquartile range, 30–55.5 years), and the median duration of the disease was 6 years (interquartile range, 1–9.5 years). Patients with MCL had mucosal involvement including destructive ulcero-proliferative lesions due to delayed diagnosis; none had a history of travel to countries endemic for MCL and all were attributable to L. donovani species. On the other hand, Leishmania major which was the causative species in both CL patients was associated with travel to the Middle East. Patients with PKDL presented with multiple plaques and hypopigmented patches; one had concomitant VL and all were from endemic areas. Hitherto uncommon MCL, caused by potentially atypical variants of L. donovani, has emerged as a new manifestation of leishmaniasis in this region. A high index of suspicion based on lesions seen and history of travel combined with PCR-based diagnostics are required to confirm diagnosis for the various skin manifestations of leishmaniasis.

Aicardi-Goutières syndrome type 6 (AGS6) and dyschromatosis symmetrica hereditaria (DSH) are allelic disorders caused respectively by biallelic and heterozygous pathogenic variants in ADAR1. We report three unrelated children presenting with features of both AGS6 and DSH, two of whom had compound heterozygous pathogenic variants in ADAR1. We also describe the novel genetic variants in our cases and review the literature on association of ADAR1-related AGS6 and DSH with these phenotypes.

Epidermolytic ichthyosis (EI) is a rare inherited ichthyosis related to heterozygous mutations in the Keratin 1 or Keratin 10 genes. Because of the broad phenotypic spectrum, it is sometimes difficult to differentiate it from other keratinopathic ichthyoses (KI) in clinical practice. We report an intriguing case of KI presenting as generalized ichthyosis in a reticulate pattern surrounding islands of normal skin, epidermolytic hyperkeratosis and binucleate cells on histopathology, and heterozygous mutation in KRT10. Through this case, we would like to demonstrate the importance of genetic studies and genotype-phenotype correlation in diagnosing such challenging cases.

BACKGROUND Conidiobolomycosis is a rare tropical rhinofacial fungal infection which has not been well characterised. The available evidence in its management is sparse due to lack of clinical studies and the limited data on antifungal susceptibility patterns. OBJECTIVE To analyse the clinical manifestations, antifungal treatment and outcomes of patients with conidiobolomycosis and to determine antifungal susceptibility profiles of the isolates. PATIENTS/METHODS Retrospective analysis of data of all patients with a diagnosis of conidiobolomycosis confirmed by histopathology and culture at a tertiary care hospital from 2012 to 2019 was done. RESULTS There were 22 patients, 21 males and one female, with a mean age of 37.1 years. Most common presenting symptom was nasal obstruction, found in 20 (90.90%) patients. Patients who presented within 12 months had a better cure rate (85%) compared to those who presented late (67%). Among the 19 patients who had a follow-up, good outcome was seen in 15 of the 17 (88.24%) patients who were on itraconazole or potassium iodide containing regimen. Of the six patients who received additional trimethoprim-sulphamethoxazole (co-trimoxazole), 67% showed good outcome with two patients showing complete cure and two patients still on treatment with significant improvement. High minimum inhibitory concentration (MIC) values were noted for azoles and amphotericin B, whereas co-trimoxazole showed lowest MIC ranges. CONCLUSION Itraconazole and potassium iodide are reasonable first-line options for the treatment of conidiobolomycosis. Good clinical response to KI and comparatively lower MIC of co-trimoxazole are promising. Further studies are required for developing clinical breakpoints that can predict therapeutic outcomes.

Background: The skin is the most common organ involved in acute graft-versus-host disease (GvHD). Because histopathology has limited utility in ruling out clinical mimics of acute skin GvHD, more accurate diagnostic techniques are required. Aim: To evaluate the utility of elafin expression in skin by immunohistochemistry (IHC) for accurate diagnosis of acute skin GvHD. Methods: Consecutive allogeneic haematopoietic stem cell transplant (HSCT) recipients during a 6-month period who developed rash within the first 100 days post-transplant were recruited. Skin biopsies were taken on the day the rash developed. IHC for epidermal elafin was performed and interpreted by a pathologist blinded to the histopathological diagnosis. Staining of ≥ 50% of epidermis was considered positive. Final diagnosis of the rash was assigned using clinical features supported by histopathology. The accuracy of elafin IHC in predicting the final diagnosis of acute GvHD was evaluated. Results: In total, 23 patients (20 male, 3 female; median age 16 years, range 3-53 years) with 27 episodes of skin rash were recruited. Skin rash post-HSCT occurred at a median of 20 days (range 5-45 days). A diagnosis of GvHD was made in 16 episodes (59.26%) while the remaining 11 episodes (40.74%) were judged to be non-GvHD rash. Elafin IHC was positive in all patients with GvHD. Of the 11 episodes of non-GvHD rash, elafin was negative in 8. Thus, the sensitivity and specificity of elafin IHC for predicting acute skin GvHD was 100% and 75%, respectively. Conclusion: Tissue elafin is a useful immunohistochemical marker for acute skin GvHD. However, larger studies are needed to validate these results.

Axial spondyloarthropathies are characterised by bilateral sacroiliitis, asymmetric oligoarthritis, association with the human leucocyte antigen (HLA)-B27, enthesitis and dactylitis. Although IgA nephropathy has a well-documented association with seronegative spondyloarthropathies, the association with Henoch-Schonlein purpura (HSP) has been documented only in few case reports. The present case is that of a 26-year-old man who presented with fever, lower limb arthritis, abdominal pain, palpable purpura over the buttocks and lower limbs, and clinical features of sacroiliitis. His blood tests showed elevated inflammatory markers and rheumatoid factor was negative. CT scan of the sacroiliac joints confirmed sacroiliitis. Skin biopsy revealed neutrophilic small vessel vasculitis. HLA-B27 was positive in blood. A diagnosis of HSP with HLA-B27 positive axial spondyloarthritis was made. HSP can be associated with HLA-B27 positive axial spondyloarthritis and has to be considered while evaluating for causes of cutaneous small vessel vasculitis in such patients.

Context: Sarcoidosis is a systemic disorder characterized histologically by noncaseating granulomas. There is paucity of Indian data on cutaneous sarcoidosis. Aims: To describe the clinical, histopathological findings, and extracutaneous involvement in cutaneous sarcoidosis. Materials and Methods: A retrospective study was done in patients of cutaneous sarcoidosis who had attended the dermatology clinic of a tertiary health care center in India from May 2009 to April 2015. The clinical details, histopathological findings, treatment, and response were reviewed. Results: There were 38 patients with cutaneous sarcoidosis. Mean age was 48 ± 13 years; 58% were female. Median duration of disease was 11 months (IQR 4–48 months). More than one morphology was seen in 28.9%, commonest being plaques (65.7%), and papules (50%). Erythema nodosum was rare. More than one site was involved in 55.3%, most commonly trunk (52.6%). Six patients had isolated cutaneous sarcoidosis. Commonest extracutaneous organs involved were lung (73.7%) and lymph nodes (68.4%). Histopathologically, classical naked sarcoidal granulomas were found in only 55.3%. Angiotensin converting enzyme (ACE) levels were elevated in 74.3% (26/35) with significant association with extracutaneous disease. Treatment included topical and/or systemic corticosteroids, hydroxychloroquine, and tacrolimus. Statistics: Pearson's Chi-square test was done to analyze associations between the skin lesions, ACE levels, and systemic involvement; P < 0.05 was considered significant. Conclusions: Cutaneous manifestations of sarcoidosis are varied, commonest being erythematous plaques. Even though most patients had systemic involvement, we found no significant association of the type and number of skin lesions with extracutaneous involvement or prognosis. Elevated ACE levels were significantly associated with systemic involvement.

Background: Paraneoplastic autoimmune multiorgan syndrome (PAMS), first described as paraneoplastic pemphigus (PNP) is a heterogeneous autoimmune syndrome with a diverse spectrum of clinical and immunopathological features associated with an internal neoplasm. Materials and Methods: The details of the patients diagnosed with PAMS/PNP from an Indian tertiary center between January 2010 to December 2019 were retrieved from the hospital database. The clinical manifestations, histopathological features, immunofluorescence findings, and other relevant clinical details were obtained. Results: There were eight patients (4 males, 4 females) with PAMS, age ranging from 8 to 46 years (mean 31 years), of whom two were 8-year-old children. The mucocutaneous manifestations were polymorphic and all had recalcitrant oral mucosal involvement. The most common mucosal presentation was pemphigus-like (5/8), and the cutaneous presentation was lichen planus-like (5/8). Castleman's disease (5/8) was the commonest neoplasm followed by thymoma (2/8). Interface dermatitis was seen in all biopsies and three different patterns of direct immunofluorescence were seen, which were intercellular “fish-net” fluorescence in the epidermis (2/8), granular/linear deposition along the basement membrane (4/8) and a combination of both patterns (1/8). Indirect immunofluorescence done on rat bladder in 3 patients showed intercellular “fish-net” fluorescence. Desmoglein levels were not elevated in any of our patients. The follow-up period ranged from 1 to 112.5 months (mean, 23.6 months) with a mortality rate of 12.5%. Conclusion: In our study, Castleman's disease was the most common associated malignancy, and the mucocutaneous and histopathological findings were heterogeneous. Timely diagnosis and early intervention improved the outcome in our patients.

Inverted papillomas are rare tumors in the pediatric population and have not been reported in children less than two years. These tumors may produce respiratory distress in patients, particularly if they ectopically occur in the airway. Human papilloma virus is one of the known etiologies for many head and neck neoplasms including inverted papillomas and squamous papillomas. We report a child who was surgically treated at fifteen months of age for inverted papilloma of the pharynx who subsequently developed squamous papilloma of the larynx which persisted as a recurrent respiratory papillomatosis. This is the first such reported case to our knowledge.

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the “bathing suit” areas. We report two Indian girls with bathing suit ichthyosis and mutations in TGM1 (patient 1: homozygous for c.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G).

Summary Development of psoriasis following allogeneic stem cell transplantation (SCT) is rare, and has been described once previously, following SCT from a sibling donor with psoriasis. This condition should be differentiated from psoriasiform graft-versus-host disease (GvHD) by histopathology. We describe a 9-year-old boy who developed generalized pustular psoriasis 2 months after allogeneic SCT from an HLA-identical sibling donor with no history of psoriasis. Diagnosis was confirmed by clinical features and multiple skin biopsies, which helped to exclude GvHD. The skin lesions responded well to treatment with acitretin. Psoriasis should be considered in the differential diagnosis of skin rash following SCT.

Rhinosporidiosis is a chronic granulomatous disorder, caused by Rhinosporidium seeberi endemic in India and Sri Lanka. The most common sites are the nasal mucosa and the nasopharynx and cutaneous lesions usually occur as a part of disseminated rhinosporidiosis. Dapsone has been frequently used in treating disseminated disease in immunocompetent individuals. Here we report a case of disseminated rhinosporidiosis in an immunocompromised individual on antiretroviral drugs, non-responsive to Dapsone and therefore treated with a multidrug therapy of Cycloserine, Dapsone and Ketoconazole with good response.

Context: Lymphomatoid granulomatosis (LYG) is a rare B-lymphoproliferative disorder characterised by an angiocentric and angiodestructive pattern along with Epstein - Barr virus (EBV) association. It is one of the diagnostic challenges in lymphoma pathology. Deregulation of EBV immune surveillance is one of the narrated hypotheses in the literature. Extrapulmonary manifestations are rare with LYG. Morphological grading is done based on the number of EBV-positive B cells, which is useful to strategize treatment protocol. Aims: We report here a series of nine cases of LYG to discuss the clinical, histological, and immunohistochemistry findings. Settings and Design: This is the first case series from India in published literature. Subjects and Methods: We reviewed cases of LYG diagnosed at our center for the past 11 years (2006-2016). A total of nine cases were included in this study. Histomorphology was studied in conjunction with immunohistochemistry and clinical details. Cases without classical morphology and negative for EBV immunostain were excluded from the study. Results: There were nine patients in our study (7 males and 2 female; M:F ratio 3.5:1). The age of these patients ranged from 4 years to 57 years (mean age: 30 years). The most common site involved was the lung (4, 44%), followed by the skin (2, 22%), central nervous system (2, 22%) and lymph node (1, 11%). One patient had primary immunodeficiency. Another patient had undergone renal transplant 11 years before the development of the lesion. Angiocentricity and angioinvasion were appreciated in all nine cases (9/9) with necrosis in four cases (44%) and ill-defined histiocytic aggregates in three cases (33%). The histological features were as follows: Grade 1(4 cases, 44%), Grade 2(2 cases, 22%), and Grade 3(3 cases, 33%). Conclusion: LYG is a rare EBV driven angiodestructive disease with predominantly lung involvement as well as isolated extrapulmonary sites as seen in our study. It is often progressive and ultimately fatal in the absence of appropriate treatment. Grading of the lesion helps to initiate the appropriate treatment of choice.

We report an unusual phenotype of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome most likely resulting from a novel X-chromosomal microdeletion encompassing the promoter region and exon 1 of the nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein gene, the neighboring gene CETN2, and more than 10 kb of noncoding deoxyribonucleic acid.

Mastocytosis is a sporadic disease characterized by an abnormal accumulation of mast cells (MCs) in single or multiple organs. It has a heterogeneous clinical picture which is a reflection of underlying tissue MC burden, mediators released and the organs involved. Here, the authors report significant symptomatic, cutaneous and systemic response to imatinib in a case of childhood onset indolent D816V KIT unmutated systemic mastocytosis (SM).A 19-year-old female presented with a history of itchy skin lesions over the face, trunk and extremities since 6 months of age associated with recurrent bouts of angioedema. The skin and bone marrow examination were consistent with mastocytosis. No pathogenic mutations were detected in exons 8 and 17. In view of the severity of cutaneous symptoms and evidence of bone marrow involvement, she was treated with imatinib which resulted in marked improvement.Imatinib has a therapeutic role in the presence of an imatinib-sensitive KIT mutation or in KIT816-unmutated patients with aggressive SM. Its role in the treatment of indolent and cutaneous mastocytosis is less well established. However, the authors have demonstrated the usefulness of imatinib in the treatment of c-KIT-negative indolent SM with extensive cutaneous involvement.

The purpose of this study is to describe the clinical and histopathological features, management and outcome of a series of patients with simultaneous occurrence of invasive and non-invasive fungal sinusitis (mixed fungal sinusitis). The histopathological records of patients with fungal sinusitis seen over the last 6 years were reviewed. The clinical, histopathological, treatment and follow up details of all cases with mixed fungal sinusitis were noted. Six cases of mixed fungal sinusitis with concurrent occurrence of chronic granulomatous fungal sinusitis and allergic fungal sinusitis (AFS) were seen during the study period. Most (83.3 %) had bilateral disease. All patients had undergone prior endoscopic sinus surgery at least once within the previous 2 years. Histopathological features showed predominance of invasive disease in half the patients. Except for one patient who did not report for follow up, all patients with predominant chronic granulomatous fungal sinusitis received systemic antifungal therapy and inhaled steroids. Those with predominant features of AFS received oral and inhaled steroids. Five patients with mixed fungal sinusitis who had follow up ranging from 6 months to 5 years were disease free following treatment. Mixed fungal sinusitis should be recognized by the surgeon and pathologist as a separate category of fungal sinusitis whose treatment depends on accurate histological diagnosis. A good outcome may be expected with appropriate therapy.

Keratosis lichenoides chronica (KLC) is an acquired keratinization disorder that is rare in childhood. We report a case of sporadic pediatric-onset KLC with seborrheic dermatitis-like lesions on the forehead, papules in a retiform pattern in the axillae and mons pubis, and eye and oral mucosal involvement,with additional features of premature canities and a transient photosensitive eruption.

Here is presented, a rare case of disseminated protothecosis in a 10-year-old boy with combined immunodeficiency, hitherto unreported from India. Even though it is difficult to diagnose clinically, observation of the sporangiospores within the sporangium in culture gives the accurate laboratory identification of Prototheca spp. In this patient, failure to eradicate the infection with amphotericin B and recurrence with olecranon bursitis along with skin lesions and splenomegaly was observed. Disseminated protothecosis in a child with combined immunodeficiency and failure to eradicate the infection with amphotericin B is reported.

Epidermolytic acanthoma (EA) is a rare benign tumor that shows epidermolytic hyperkeratosis (EH) on histopathology. It can occur in a solitary or disseminated form. This condition needs to be distinguished from other hereditary or acquired conditions that may show EH. We diagnosed an unusual case of EA of the vulva presenting in a linear pattern in a 50-year-old lady based on the clinical features and typical histopathological findings and stress the importance of considering epidermolytic acanthoma in the differential diagnosis of verrucous lesions of the genitalia.