An Algorithmic Approach Towards Diagnosis of Patients with Hereditary Reticulate Pigmentary Disorders- A narrative review.

Hereditary reticulate pigmentary disorders include a group of genetic disorders with net-like pigmentation as their predominant presentation. Many of these hereditary reticulate pigmentary disorders have a wide array of cutaneous presentations with overlapping features. Furthermore, some of these disorders also have systemic manifestations. The overlapping features often add confusion and cause delay in the diagnosis. Based on the literature search, we propose an easy-to-follow concise diagnostic algorithm for the same. This would aid in ordering a definite genetic test. A thorough data search was done using data base PubMed using the following keywords. It included "'inherit*' OR 'genetic'" AND "reticulate AND pigment*"'. Thereafter, an individual disease search was done using keywords 'Dowling-Degos disease', 'Dyschromatosis Hereditaria Symmetrica', 'Acropigmentation of Kitamura', 'Dyschromatosis Universalis Hereditaria', 'Naegeli-Franceschetti-Jadasssohn syndrome', 'X-linked reticulate pigmentary disorder' and 'Dyskeratosis congenita'. The search included case reports, series, observational studies, narrative and systematic reviews, clinical trials. Acquired pigmentary disorders were excluded. A total of 1994 articles were retrieved. Finally, 625 articles were included for the review. The articles were narrative review articles (40), case series (23), observational studies (44), and case reports (518). An easy-to-follow clinical diagnostic algorithm based on age of onset, distribution, and other parameters would definitely aid in reaching a provisional diagnosis. And further this approach will help in the genetic workup of a case of hereditary reticulate pigmentary disorder.

A Clinico-Histopathological Study of Lupus Vulgaris at a Tertiary Care Centre.

Background and objectives Lupus vulgaris is a chronic, progressive, paucibacillary form of cutaneous tuberculosis that occurs in persons with moderate to high immunity. Due to its varied clinical presentation, it can masquerade as different dermatological conditions. This study describes the demographic patterns and varieties of clinical manifestations that can be possible in this curable illness. Methods This study was conducted over two years and included 19 patients with histopathologically confirmed lupus vulgaris in Odisha, India. Demographic data, clinical features, and response to treatment are presented. Results Thirteen cases (68.4%) were seen in adults and six (31.6%) in pediatric patients. The lower limbs were the more affected (n=10), followed by the upper limb (6), the face (2), and the chest (1). All but one patient had plaque-type lesions. On histopathology, all showed a tuberculoid granuloma with no demonstration of acid-fast bacilli with Ziehl-Neelsen staining. Conclusion In the present study, the incidence was mostly observed in the young and higher activity age groups (5-40 years). Plaque-type lesions were most commonly encountered. In histopathology, all the cases had tubercular granuloma-type lesions without any incidence of malignant transformations. All the patients responded well to conventional multi-drug anti-tubercular chemotherapeutic regimens.

A case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma.

Acrodermatitis enteropathica (AE) is a rare inherited form of defective zinc absorption usually manifesting as eczematous and erosive dermatitis preferably over periorificial and acral areas which at times mimics various hereditary palmoplantar keratodermas (PPK). We reported a 6-year-old boy who presented with hard plaques over both palm and sole, and periorificial areas, and flexion attitude of digits without any history of diarrhea and prolonged illness. The patient improved dramatically with zinc supplementation including correction of flexion deformities of the fingers. There was improvement of serum alkaline phosphatase level within 3 months. The lesions reappeared again whenever there was discontinuation of therapy for few weeks, thus confirming it to be zinc deficiency dermatoses. This kind of manifestation has rarely been described in earlier literature.

Progressive Osseous Heteroplasia: A Rare Case Report.

Progressive osseous heteroplasia (POH) is a rare genetic condition of progressive extraskeletal bone formation. POH is clinically suspected by cutaneous ossification, usually presenting in early life, that involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. We report a case of POH in a 3-year-old child with multiple nontender subcutaneous nodules which, on radiology and histopathology, showed intracutaneous bone formation. Although there is no specific and effective treatment, knowledge about this entity is necessary for early detection and genetic counseling of parents.

Study of Clinical Profile of Patients Presenting with Topical Steroid-Induced Facial Dermatosis to a Tertiary Care Hospital.

BACKGROUND: Topical corticosteroids (TCs) are widely used for various indications in dermatology. However, these can cause a plethora of symptoms if overused or abused. Topical steroid damaged face is a relatively new entity which was described in 2008. TC abuse cause a myriad of side effects viz, erythema, telangiectasia, acne, acneiform eruption, hyper/hypopigmentation, rosacea, and photosensitivity when used inappropriately. AIM: The aim of the study was to ascertain the prevalence, demographics, and clinical presentations of TC abuse on faceamong our population. MATERIALS AND METHODS: This was a cross-sectional study performed at dermatology department of a tertiary care teaching hospitallocated in eastern India for 1 year. All patients with facial dermatoses attending the outpatient department were asked about use of TC in recent past and those with positive history were included. A detailed clinical evaluation was undertaken and various demographic and clinical data were recorded. RESULTS: A total of 316 patients (53 males, 263 females) presented with topical steroid-induced facial dermatoses during the entire study period. Majority of them used these agents on suggestion of close friends and relatives, pharmacists, television commercials, and doctors. Mometasone in the form "No-Scar" preparation was the most commonly abused topical steroid in our study. The most common side effects encountered were steroid-induced acne (45.2%) or flare of pre-existing acne followed by erythema and telangiectasia (21.2%), hypertrichosis (6.6%), rosacea (2.2%), and atrophy (1.5%). The most common reason for abusing TC was to get a fairer skin tone. CONCLUSION: Our study reports the clinical patterns of TC abused facial dermatoses. The fantasy to get a fairer skin among the people of our country has led to the abuse of topical corticosteroids. We conducted this study to create awareness among these patients about the dreadful effects of steroid misuse.

Reverse Koebner Phenomenon in Bullous Pemphigoid - A Case Report.

Reverse Koebner response is the nonappearance or disappearance of the lesions of particular dermatoses at the site of injury. Herein we report a case of the reverse Koebner phenomenon in bullous pemphigoid in a 35-year-old male patient with sparing of the waist area which could probably be because of the phenomenon of locus majoris resistentiae. The histopathology of the lesion showed subepidermal split with a mixed inflammatory infiltrate, which was composed of predominantly eosinophils, neutrophils, and lymphocytes, but the histopathology of the spared skin showed no abnormalities. However, the direct immunofluorescence from the perilesional area showed linear deposits of immunoglobulin G and C3 in the dermoepidermal junction, but there were no deposits in direct immunofluorescence from the spared skin. This case is being reported for its originality and one of its kind.

Dowling-Degos Disease - A Novel Presentation of An Uncommon Disease.

Dowling-Degos Disease is a rare, pigmentary disorder with variable presentations. The most common among them are hyperpigmented macules and reticulate pigmentary anomaly of flexures. Many other phenotypic variations of Dowling-Degos disease have been reported in literature. We present here a case of Dowling-Degos disease with comedo-like lesions and pits without typical flexural hyperpigmented macules.

Total Dystrophic Onychomycosis Due to Syncephalastrum racemosum - A Rare Cause and its Novel Treatment Option.

Onychomycosis is a fungal infection of the nail caused by dermatophytic (99%) and/or non-dermatophytic (1%) (including yeasts) infections of the nailplate. Among the non-dermatophytes, the yeast Candida albicans, Candida tropicalis, and other molds like Scopulariopsis spp., Scytalidium spp., Fusarium spp., and Aspergillus spp. may be responsible. Herein, we report a case of total dystrophic onychomycosis in a 41-year-old female, caused by Syncephalastrum racemosum and its complete improvement with a combination of oral pulse itraconazole and 1064 nm Q-switched Nd-YAG laser. This case is being reported due to the rarity of causative organism for onychomycosis and a novel approach in its treatment.

Cutaneous Manifestations of Multiple Myeloma.

Multiple myeloma (MM) is a proliferative disorder of plasma cells which produce abnormal immunoglobulin proteins. Skin involvement is rarely found in this disorder. They are either specific or nonspecific lesions. We report four such interesting patients who presented to us initially with common dermatoses such as leukocytoclastic vasculitis, pyoderma gangrenosum, and vesiculobullous disorders and were subsequently diagnosed to have MM. There were no skeletal involvements or renal function abnormality at the time of presentation. Unusual presentation, nonresponsiveness to conventional therapy, and abnormal blood parameters prompted us to suspect some underlying systemic conditions which were later confirmed to be MM after serum immunoelectrophoresis for M-band and bone marrow biopsy.