RARE ASSOCIATION OF HYPER IgE SYNDROME WITH CERVICAL RIB AND NATAL TEETH

Hyper IgE syndrome (HIES) is a rare immunodeficiency syndrome characterized by a triad of cutaneous abscesses, mostly caused by Staphylococus aureus; pneumonia; and raised IgE levels. Nonimmunological associations include course facial features, multiple bone fractures, joint hyperextensibility, and retained primary dentition. Patients require long-term antibiotic therapy. We report here a classical case of HIES with rare associations of natal teeth, bilateral cervical ribs, and conductive deafness. The patient was being treated with monteleukast and dapsone.     

Interchanging Autoimmunity - Lupus Mastitis Coexisting with Systemic Polyarteritis Nodosa

Lupus mastitis is an uncommon presentation of lupus erythematosus profundus (LE profundus), characterized by inflammation of the subcutaneous fat. LE profundus occurring as initial manifestation of LE is rare. We report a case where the patient presented with lupus mastitis and years later, she developed disseminated discoid LE (DLE) and polyarteritis nodosa (PAN). PAN and DLE are connective tissue diseases with different etiologies, clinical, immunological, and histopathological features. One connective tissue disease evolving into another is rare, and the reasons remain unexplained. This woman had histopathologically proven DLE and lupus mastitis with a negative antinuclear antibody profile. She satisfied the American College of Rheumatology criteria for PAN.     

STUDY OF THE ROLE OF SERUM FOLIC ACID IN ATOPIC DERMATITIS: A CORRELATION WITH SERUM IgE AND DISEASE SEVERITY

Background:

Most atopic dermatitis (AD) patients have elevated serum immunoglobulin E (IgE). Impaired folic acid (FA) metabolism was found to reduce the intracellular methyl donor pool, associated with a higher prevalence of atopy.

Aim:

To assess serum IgE and FA in AD patients and to correlate their levels with the disease severity, and with each other.

Materials and Methods:

Twenty patients with AD were assessed for serum FA and IgE, compared with 20 age- and sex-matched controls. Patients were classified into three groups (mild, moderate, and severe AD) based on clinical severity according to Nottingham index. In both patients and controls, serum IgE was measured using Enzyme-linked immunosorbent assay technique and serum FA was measured using Microparticle Enzyme Immunoassay technique.

Results:

Serum FA levels were lower in AD patients compared with controls, but the difference was not statistically significant. FA levels did not show statistically significant difference among disease severity groups and did not correlate with serum IgE levels. On the other hand, serum IgE levels were significantly elevated in AD patients compared with controls, and among AD patients, its levels were significantly elevated in severe AD compared with mild and moderate disease.

Conclusion:

Serum IgE is useful in assessment of AD severity and activity. FA contribution to AD needs further investigations.     

Omalizumab—A Review

Omalizumab is a recombinant, humanized, monoclonal antibody against human immunoglobulin E (IgE). The US FDA has approved this molecule for chronic urticaria.     

Topical Therapy in Atopic Dermatitis in Children

Atopic dermatitis (AD) is a common, chronic childhood skin disorder caused by complex genetic, immunological, and environmental interactions. It significantly impairs quality of life for both child and family. Treatment is complex and must be tailored to the individual taking into account personal, social, and emotional factors, as well as disease severity. This review covers the management of AD in children with topical treatments, focusing on: education and empowerment of patients and caregivers, avoidance of trigger factors, repair and maintenance of the skin barrier by correct use of emollients, control of inflammation with topical corticosteroids and calcineurin inhibitors, minimizing infection, and the use of bandages and body suits.     

Multiple Carboxylase Deficiency (Late Onset) Due to Deficiency of Biotinidase

Biotinidase is a ubiquitous mammalian cell enzyme occurring in liver, serum and kidney. It cleaves biotin from biocytin, which is a cofactor for biotin dependent enzymes, namely the human carboxylases. Biotinidase deficiency is associated with a wide spectrum of neurological, dermatological, immunological and ophthalmological abnormalities. This is a case of a 3-year-old boy presenting with delayed developmental milestones, tachypnea, progressively increasing ataxia, alopecia and dermatitis, all which dramatically responded to high doses of biotin.     

Leukocytoclastic vasculitis: a window to systemic churg strauss syndrome

A twenty year old male presented with purpuric lesions with chronic painful ulcers over the lower extremities and a recurrent pruritic rash on the trunk for 10 years. He was diagnosed as idiopathic leukocytoclastic vasculitis (LCV) after investigations failed to reveal a systemic association. He was treated with immunosuppressants at each visit with partial remission. In 2004, he was diagnosed with bronchial asthma and allergic rhinitis. In his recent admission, he showed necrotic ulcers on legs and extensive shiny, truncal micropapules. Examination revealed maxillary sinus tenderness and loss of sensation on the medial aspect of the left lower limb. Biopsy of ulcer and the micropapules showed the presence of extravascular eosinophils, while hematological investigations showed peripheral eosinophilia of 18%, raised serum Immunoglobulin E (IgE), Anti nuclear antibody (ANA) positivity and negative antineutrophil cytoplasmic antibody (ANCA). Radiography confirmed maxillary sinusitis, nerve conduction studies revealed mononeuritis of the anterior tibial nerve and pulmonary function tests (PFT) were normal. Clinical examination and investigations pointed towards the diagnosis of Churg-Strauss syndrome (CSS). This report highlights the development of full-blown CSS over a period of 12 years in a patient initially diagnosed as idiopathic LCV, emphasizing the need for regular follow-up of resistant and recurrent cases of LCV.     

Polymyositis and dermatomyositis: Disease spectrum and classification

Muscle inflammation and weakness are the key features of idiopathic inflammatory myopathies (IIMs). In addition IIMs are frequently associated with cutaneous and pulmonary involvement. In clinical practice the three common inflammatory myopathies we come across are polymyositis (PM), dermatomyositis (DM) and inclusion body myositis (IBM). The Bohan and Peter criteria combine clinical, laboratory, and pathologic features to define PM and DM. They did not recognize inclusion body myositis (IBM) or other inflammatory myopathies, such as granulomatous and eosinophilic myositis. Thus the disease spectrum is wide and IIMs are a heterogeneous group of autoimmune disorders. To address these issues in this article we have discussed the currently developing newer classifications of IIMs.     

Trichoepithelioma and Basal Cell Carcinoma with Squamous Differentiation: Is it Causal or Coincidental?

Trichoepitheliomas (TEs) are benign cutaneous tumors that occur either as solitary non-familial or multiple familial. We report a case of multiple familial trichoepithelioma (MFT) in a 55-year-old female patient and her son who came with complaints of single ulcerated mass involving the left nasolabial fold and cheek. She had multiple papules and nodules all over the face and neck since 25 years. Histopathological examination of an ulcerated lesion revealed features of basal cell carcinoma (BCC) with squamous differentiation, which was confirmed by immunohistochemistry. A skin biopsy obtained from the papule on neck showed features of TE. However, whether BCC developed independently or by transformation from TE was uncertain. Her 36-year-old son presented with similar lesions on the face and a skin biopsy showed features of TE. Though malignant transformation of TE is quite rare, awareness of the potential for evolution of carcinoma in patients with MFT is important for management of these patients.     

Churg-strauss syndrome

Churg-Strauss syndrome (CSS) is a rare granulomatous necrotizing small vessel vasculitis characterized by the presence of asthma, sinusitis, and hypereosinophilia. The cause of this allergic angiitis and granulomatosis is unknown. Other common manifestations are pulmonary infiltrates, skin, gastrointestinal, and cardiovascular involvement. No data have been reported regarding the role of immune complexes or cell mediated mechanisms in this disease, although autoimmunity is evident with the presence hypergammaglobulinemia, increased levels of IgE and Antineutrophil cytoplasmic antibody (positive in 40%). We report the case of a 27-year-old lady presenting with painful swelling of predominantly lower limbs with extensive vesicles and ecchymotic patches and fever shortly after stopping systemic steroids taken for a prolonged duration (2002--2010). The aim of this case report is to point to the possibility of CSS in patients presenting with extensive skin lesions masquerading as Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Syndrome (SJS/TENS).     

Rabson-Mendenhall Syndrome

Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia. Herein, we describe a 13-year-old girl with physical features of RMS who presented to us on account of acanthosis nigricans.     

Cardiofaciocutaneous syndrome: a rare entity

The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.     

Oral Ketotifen and Topical Antibiotic Therapy in the Management of Pruritus in Prurigo Nodularis: A Randomized,Controlled, Single-Blind,Parallel Study

Aims:

To evaluate the role of oral ketotifen and topical antibiotic therapy in the management of pruritus in prurigo nodularis (PN) patients.

Materials and Methods:

Twenty-seven patients with PN and a history of atopy with raised IgE were included in this study in a dermatology clinic. All patients had positive growth of Staphylococcus aureus on the lesional skin swab. All patients received topical halobetasol and oral hydroxyzine for 4 weeks. In addition, all patients in the study group received oral ketotifen and topical antibiotic therapy for 4 weeks. Randomization was performed by using a table of random numbers, and the participants were randomly allocated to one of the two groups in the study. The study was a single-blind study, and the blinding was done by the investigator.

Results:

Of the 14 patients in the study group, 9 had complete relief from pruritus by the end of first week, which was maintained till the end of 4 weeks. In the control group, mild to moderate reduction in the intensity of pruritus in the PN lesions of all patients were noted by the end of the first week. No further improvement in the level of pruritus was noted in the participants during the trial period. The treatment was well tolerated by the patients, and the adverse reactions of drugs were minimal in both groups.

Conclusions:

This study showed that oral ketotifen and topical antibiotic therapy can be helpful in the management of pruritus in PN patients.     

Cutaneous Manifestations of Mixed Connective Tissue Disease: Study from a Tertiary Care Hospital in Eastern India

Context:

Mixed connective tissue disorder is an uncommon disease. Some scientists are reluctant to recognize it as a separate entity. Some others have defined this ailment. Cutaneous features of this condition are unique. Researchers from India have described these features to relate to those described in the studies from other parts of the globe.

Aims:

This study aims to delineate the skin manifestations of clearly defined mixed connective tissue disease (MCTD) patients, to compare them with those established as overlap syndrome, and to relate them with studies from other parts of the globe.

Settings and Design:

Successive patients who fulfilled the specific criteria for MCTD presenting in the skin outpatient department of a tertiary care hospital in eastern India were clinically examined from 2009 for 3 years.

Materials and Methods:

The number of participants was 23 and the dermatological features of these were compared with 22 patients with overlap syndrome. The antibody to uridine-rich U1 ribonucleoprotein was measured for all patients.

Statistical Analysis Used:

SPSS (Version 17) and MedCalc (Version 11.6).

Results:

The Male: Female ratio among the MCTD patients was 1:6.67 and that of the overlap syndrome was 1:10. Twenty patients of the MCTD group presented with synovitis as against only seven in the overlap group. Raynaud''s phenomenon was present in some of the subjects. Puffy fingers were rare in our study. Facial numbness was reported by four of those suffering from MCTD. Antinuclear antibody (ANA) was essentially of a speckled pattern in this disease

Conclusions:

Cutaneous indicators of MCTD are distinct from overlap syndrome. Knowledge of these manifestations prevalent in a region may lead to early diagnosis of the disease.     

Role of Skin Prick Test in Allergic Disorders: A Prospective Study in Kashmiri Population in Light of Review

Background:

Skin prick test (SPT) is the most effective diagnostic test to detect IgE mediated type I allergic reactions like allergic rhinitis, atopic asthma, acute urticaria, food allergy etc. SPTs are done to know allergic sensitivity and applied for devising immunotherapy as the therapeutic modality.

Materials and Methods:

This prospective study was conducted in the department of Immunology and Molecular medicine at SKIMS. A total of 400 patients suffering from allergic rhinitis, asthma and urticaria were recruited in this study. SPT was performed with panel of allergens including house dust mite, pollens, fungi, dusts, cockroach, sheep wool and dog epithelia. Allergen immunotherapy was given to allergic rhinitis and asthmatic patients as therapeutic modality.

Results:

In our study, age of patients ranged from 6 to 65 years. Majority of patients were in the age group of 20-30 years (72%) with Male to female ratio of 1:1.5. Of the 400 patients, 248 (62%) had urticaria, 108 (27%) patients had allergic rhinitis and 44 (11%) patients had asthma. SPT reaction was positive in 38 (86.4%) with allergic asthma, 74 (68.5%) patients with allergic rhinitis and 4 (1.6%) patient with urticaria, respectively. Allergen immunotherapy was effective in 58% patients with allergic rhinitis and 42% allergic asthma.

Conclusion:

Identifiable aeroallergen could be detected in 86.4% allergic asthma and 68.5% allergic rhinitis patients by SPT alone. Pollens were the most prevalent causative allergen. There was significant relief in the severity of symptoms, medication intake with the help of allergen immunotherapy.     

高IgE综合征临床表现及与特应性皮炎的鉴别诊断

高IgE综合征(hyper-immunoglobulin E syndrome,HIES)是临床少见的以免疫和结缔组织紊乱为特点的原发性遗传免疫缺陷病,临床表现主要为慢性湿疹样皮炎,伴血清IgE水平及嗜酸粒细胞计数的持续升高、严重反复的细菌或病毒感染、骨骼发育异常等表现,部分患者早期有并发恶性肿瘤的可能。HIES属于少见病,临床医师对本病的认识不足,而特应性皮炎(atopic dermatitis,AD)和HIES的主要临床表现、实验室检查结果等有很多相似,HIES容易被漏诊或误诊为AD。该文通过归纳分析高IgE综合征的临床表现和实验室检查指标特征,比较与AD的异同,可提高临床医生对HIES的认识以及对这两种疾病的鉴别诊断能力。     

Pathogenesis of dermatophytoses

Dermatophytes can survive solely on outer cornified layers of the skin. The ability of certain fungi to adhere to particular host arises from numerous mechanisms and host factors, including the ability to adapt to the human body. Natural infection is acquired by the deposition of viable arthrospores or hyphae on the surface of the susceptible individual. After the inoculation in the host skin, suitable conditions favor the infection to progress through the stages of adherence and penetration. Development of host response is mostly by a T-cell mediated response of delayed-type hypersensitivity. Antibody formation does not seem to be protective. Natural defenses against dermatophytes depend on both immunological and nonimmunological mechanisms.     

Predominant Palmoplantar Lichen Planus: A Diagnostic Challenge

Background:

Palmoplantar lesions in lichen planus (LP) are uncommon. In such cases, diagnosis is usually missed. This study was conducted to document various clinical and histopathological features of palmoplantar LP.

Materials And Methods:

A total of 18 patients from our outpatient department with lesions of LP, either predominantly or exclusively on palms and/or soles were studied. Patients with history of drug intake in recent past and patients with classical acute widespread LP with a few lesions on palms or soles were excluded. In each patient, diagnosis was made on clinicopathological correlation. Various clinical and histopathological features were analyzed.

Results:

Average age of onset was 38 years. Male: female ratio was 1:0.6 and average disease duration was 11 months. Exclusive palm or sole involvement was seen in 4/18 patients. Itching was the most common symptom. Clinically the most common variant was hypertrophic. Histologically presence of parakeratosis, spongiosis, lack of melanophages, and lack of hypergranulosis in some cases was seen in addition to classical features of LP. In 3 out of 4 patients with exclusive palmoplantar involvement diagnosis of LP was missed clinically.

Conclusion:

Involvement of palms and soles in LP poses a diagnostic challenge due to variable presentations. Histopathology is of vital importance for correct diagnosis and treatment.     

A Study of Various Histopathological Features and their Relevance in Pathogenesis of Psoriasis

Background:

The pathogenesis of psoriasis is still to be fully unraveled. The immunological theory with T cells at the centre of attraction and peripherally acting cytokines are the present favourites among aetiopathological factors. Histopathology of the skin lesions offers a good study model to understand the pathogenesis of this complex disease.

Aims:

To study the various histopathological parameters of psoriatic lesions, and to establish their correlation with the pathogenesis of the disorder.

Materials and Methods:

Eighty eight consecutive histopathologically proven cases of psoriasis were included in the study. Eight common histopathological parameters of psoriasis present in these biopsies were assessed and graded. We then statistically analyzed the relationship of the factors with one another and attempted to establish a better understanding of the pathogenesis of disease.

Results:

Significant correlations were found between degree of epidermal hyperplasia and inflammatory infiltrate, grade of inflammation and pustules of Kogoj, inflammatory infiltrate and grade of capillary proliferation as also between epidermal hyperplasia and the presence of parakeratosis.

Conclusion:

The study suggests that the immunopathogenesis of psoriasis is predominantly based on the inflammatory response. This is in consonance with other studies which have suggested that psoriasis is primarily a T lymphocyte based disease. Several treatment modalities are now based on this concept and it is hoped that the future treatment modalities will focus on the central role of inflammatory cells in the pathogenesis of this enigmatic disease.