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1.
Pediatr Dermatol ; 35(3): 392-396, 2018 May.
Article in English | MEDLINE | ID: mdl-29573443

ABSTRACT

Chikungunya fever is a benign, self-limiting, acute viral illness. An epidemic occurred in New Delhi, India, in August and September 2016. We observed many cases with atypical cutaneous features mimicking Stevens-Johnson syndrome and toxic epidermal necrolysis during this epidemic, especially in infants and children. Twenty-one children (13 [61.9%] boys, 8 [38%] girls) presenting with vesico-bullous and necrotic lesions were reviewed. Cutaneous presentation included vesicles and bullae with purpuric macules and necrosis, seen in 16 (76%) patients. Skin lesions resolved in 5-7 days, leaving behind hyperpigmentation in seven (33.3%) patients and hypopigmentation in three (14.2%). Minor oral erosions were observed in three (14.2%) patients, and palmoplantar erythema was seen in four (19.04%). It is essential for dermatologists to understand the Stevens-Johnson syndrome and toxic epidermal necrolysis-like presentation of chikungunya and not to misinterpret it as true Stevens-Johnson syndrome and toxic epidermal necrolysis, which will lead to unnecessary intervention and management.


Subject(s)
Chikungunya Fever/diagnosis , Stevens-Johnson Syndrome/diagnosis , Child , Child, Preschool , Diagnosis, Differential , Female , Humans , Male , Severity of Illness Index , Skin/pathology
2.
Skinmed ; 16(2): 125-127, 2018.
Article in English | MEDLINE | ID: mdl-29911533

ABSTRACT

38-year-old married woman presented with multiple spontaneous painful ulcers that had involved both forearms for the previous month, along with a single episode of generalized tonic-clonic seizures, with no residual palsy or paresis. She complained of photosensitivity and diffuse hair loss for the past 6 months. She also had had arthralgia for the previous 3 years, which had initially involved the small joints of the fingers (especially the proximal interphalangeal joints) and gradually progressed to involve the larger joints. There was no history of recurrent oral ulcers, psychosis, thromboembolic events, or any other skin lesions. Two years previously, she had taken antitubercular treatment for pulmonary tuberculosis.


Subject(s)
Forearm/pathology , Lupus Erythematosus, Systemic/diagnosis , Lupus Erythematosus, Systemic/drug therapy , Adult , Arthralgia/diagnosis , Arthralgia/etiology , Diagnosis, Differential , Disease Progression , Female , Humans , India , Lupus Erythematosus, Systemic/pathology , Photosensitivity Disorders/diagnosis , Photosensitivity Disorders/etiology , Severity of Illness Index , Skin Ulcer/diagnosis , Skin Ulcer/etiology
3.
Dermatol Online J ; 23(8)2017 Aug 15.
Article in English | MEDLINE | ID: mdl-29469741

ABSTRACT

Primary localized cutaneous amyloidosis refers to a group of disorders characterized by deposition of amyloid in the dermis without any systemic involvement. It comprises the following clinical types: macular, lichenoid, nodular, and biphasic. There are also rare variants such as amyloidosis cutis dyscromica and poikiloderma-like cutaneous amyloidosis. We report a case of primary cutaneous amyloidosis in a 17-year-old boy with unusual pigmentation of various patterns (reticulate and diffuse pigmentation with mottling and rippling at places) and hypopigmented atrophic macules. Our patient also had nail, oral, and mucosal pigmentation that have not been described. Amyloid deposits were shown histopathologically in both hyperpigmented and hypopigmented macules.


Subject(s)
Amyloidosis/complications , Amyloidosis/diagnosis , Hyperpigmentation/etiology , Hypopigmentation/etiology , Mouth Diseases/etiology , Adolescent , Amyloidosis/pathology , Foot Dermatoses/etiology , Hand Dermatoses/etiology , Humans , Hyperpigmentation/pathology , Hypopigmentation/pathology , Keratosis/etiology , Keratosis/pathology , Male , Mouth Diseases/pathology
5.
Skinmed ; 14(4): 253-258, 2016.
Article in English | MEDLINE | ID: mdl-27784513

ABSTRACT

Allergic contact dermatitis (ACD) in children is not uncommon. The reported rates of positive patch test in various series in children with suspected ACD varies from 32.6% to 67%. At present, patch testing is the only reliable test to identify various contact allergens in a suspected case of ACD. The aim of this study was to find out the common allergens responsible for ACD in children and adolescents. Patch testing was carried out with Indian Standard Series. Additional allergens were added wherever implicated from history. Seventy-four patients were recruited during the study period, of which analysis was performed in 70 patients. Thirty-eight (54.3%) patients had one or more positive patch test results. The most common allergen found to be positive was nickel sulfate. The clinically relevant reactions were found in 78.94% of patients. The relevance of positive patch test reactions were higher in children (3-9 years) compared with adolescents (10-19 years) and it was found to be statistically significant (P=.030). ACD is a significant health problem in children, compromising their quality of life, therefore age should not be a bar for performing patch testing to diagnose this clinical condition.


Subject(s)
Allergens/adverse effects , Dermatitis, Allergic Contact/diagnosis , Patch Tests , Adolescent , Age Factors , Child , Child, Preschool , Dermatitis, Allergic Contact/etiology , Humans , Nickel/adverse effects , Quality of Life , Young Adult
6.
Indian J Community Med ; 49(4): 649-653, 2024.
Article in English | MEDLINE | ID: mdl-39291116

ABSTRACT

Dermatological disorders constitute a significant proportion of primary health care (PHC) setups. The pattern of dermatological disorders varies among different countries and different parts of the same country owing to climatic and geographical variations, level of education, access to health care, etc. To study the clinical spectrum of patients presenting with dermatological disorders at an urban health center (UHC) in East Delhi. To identify the various risk factors associated with dermatological disorders in study subjects. A total of 1,148 patients who reported skin diseases for the first time at the Dermatology Outpatient Clinic at UHC in East Delhi were recruited. Detailed demographic data, history, and examination and potential risk factors of skin diseases (socioeconomic status, level of education, occupation, comorbidities, and addictions) were recorded on a predesigned proforma. A total of 616 (53.7%) patients had infectious dermatoses and 532 (46.3%) had non-infectious dermatoses. Among the infectious dermatoses, fungal diseases (44.8%) were the most common followed by parasitic infections (31.17%) and bacterial infections (9.74%). Among the non-infectious group, eczematous disorders (28.01%) were the most common, followed by pigmentary disorders (21.62%) and acne (19.55%). A significant association between level of education, occupation, and comorbidities with the distribution of infectious and non-infectious dermatoses was found. As a significant proportion of patients with a vivid spectrum of dermatological disorders present at the PHC setups, therefore dermatologists supervise that specialty clinics should be held regularly at these centers along with the availability of all the basic investigations to aid diagnosis and management.

7.
Indian J Dermatol ; 69(1): 7-15, 2024.
Article in English | MEDLINE | ID: mdl-38572043

ABSTRACT

Background: Many studies have associated male androgenetic alopecia with the risk of cardiovascular disorders but very few studies have addressed this association in women with FPHL. Materials and Methods: This was a cross-sectional hospital-based study in which a total of 50 women (18-45 years) were recruited. The objective was to measure carotid intima-media thickness (CIMT) by doppler ultrasound, Body mass index (BMI), waist circumference, lipid profile, fasting blood sugar (FBS), insulin, testosterone, Sex hormone binding globulin (SHBG), hs-CRP, ESR and fibrinogen, in pre-menopausal women having FPHL and to correlate these parameters with severity of FPHL. The prevalence of Metabolic syndrome (MetS) and Insulin resistance were evaluated. Results: Metabolic syndrome and insulin resistance were found in 12 (24%) and 17 (34%) cases respectively. Hypercholesterolemia, elevated LDL levels and hypertriglyceridemia, low HDL levels and hyperinsulinemia were found in 11 (22%), 31 (62%), 9 (18%), 17 (34%) and 7 (14%) cases respectively. 8 (16%) cases were diabetics. Elevated ESR, increased fibrinogen levels and elevated hs-CRP were found in 43 (86%), 10 (20%) and 21 (42%) cases respectively. CIMT was found to be within its normal range. Correlation of CIMT, anthropometric indices (BMI and WC), biochemical markers (serum cholesterol, triglycerides, FBS, and fibrinogen), and presence of metabolic syndrome with severity of FPHL in terms of Ludwig grade was found to be statistically significant. Conclusions: The determination of metabolic syndrome, insulin resistance and acute phase reactants such as hs-CRP and fibrinogen may be useful screening methods to detect increased cardiovascular risk in women with FPHL.

8.
J Cutan Aesthet Surg ; 17(2): 94-99, 2024.
Article in English | MEDLINE | ID: mdl-38800813

ABSTRACT

Introduction: Acanthosis Nigricans (AN) is an acquired disorder of keratinization. It presents as hyperpigmentation, velvety texture of skin that can involve any part of the body including the face. Different topical, systemic therapies, or physical therapies including laser have been explored. However, there are not many randomized controlled studies for the majority of therapy alternatives besides lifestyle modifications and weight reduction. Objectives: The aim of this study was to compare the effectiveness of 15% trichloroacetic acid (TCA) and 35% glycolic acid (GA) peel for AN. Materials and Methods: Forty participants were included and randomized into two groups. In groups A and B, peeling with 15% TCA and 35% GA was done, respectively. The effectiveness of each peel was assessed using changes in the Acanthosis Nigricans Area and Severity Index Score (ANASI) and Physician Assessment Score. Statistical analysis included Wilcoxon-Mann-Whitney test, Friedman test, and generalized estimating equations. Results: The overall change in ANASI over time was compared in the two groups using the generalized estimating equations method. A significant difference was observed in the trend of ANASI over time between the two groups (P < 0.001). TCA peel group showed more change in ANASI as compared with GA peel group. Conclusion: In our research, 15% TCA has a better efficacy when compared with 35% GA peel after three sessions of chemical peeling. We therefore recommend the use of 15% TCA peel in AN as a safe and effective treatment option. However, more comprehensive randomized control studies are required for supporting data.

9.
Indian J Dermatol Venereol Leprol ; 89(2): 221-225, 2023.
Article in English | MEDLINE | ID: mdl-35841351

ABSTRACT

BACKGROUND: An elevated cardiovascular risk has been demonstrated in middle-aged individuals with onset of hair greying before the age of 30 years. Increased serum levels of pro-inflammatory cytokines, interleukin-6 (IL-6) and tumour necrosis factor-alpha (TNF-α), indicate an ongoing state of chronic inflammation that is correlated with cardiovascular risk but have not been studied earlier in patients with early onset of hair greying. AIM/OBJECTIVE: To study various cardiovascular risk markers including pro-inflammatory cytokines interleukin-6 (IL-6) and tumour necrosis factor-alpha (TNF-α) in patients with premature canities. METHODS: This was a hospital-based case-control study of 40 patients with premature canities (age between 19 and 25 years; >5 grey hair) and an equal number of age and gender-matched healthy controls. The blood pressure, pulse rate and body mass index were recorded, and investigations including fasting blood sugar, serum insulin, fasting lipid profile, high sensitivity c-reactive protein (hs-CRP), IL-6 and TNF-α were performed. The homeostatic model assessment of insulin resistance (HOMA-IR) was calculated for all the participants. RESULTS: The mean blood pressure, fasting blood sugar, serum insulin, hs-CRP and HOMA-IR were all significantly elevated in patients with premature canities and the serum HDL levels were significantly lower. A greater number of patients with premature canities had significantly elevated IL-6 as compared with the controls. LIMITATIONS: The sample size was small. A subjective scale was used for grading the severity of premature canities. Trichoscopic evaluation of severity of greying or modified phototrichogram could not be used in this study. CONCLUSION: Abnormalities in cardiovascular risk markers were found in patients with premature canities. Screening and counselling of patients with premature greying of hair is recommended in order to prevent future cardiovascular disease.


Subject(s)
Cardiovascular Diseases , Hair Diseases , Insulin Resistance , Insulins , Middle Aged , Humans , Young Adult , Adult , C-Reactive Protein/analysis , Interleukin-6 , Tumor Necrosis Factor-alpha , Cardiovascular Diseases/diagnosis , Cardiovascular Diseases/epidemiology , Blood Glucose , Case-Control Studies , Risk Factors , Cytokines , Heart Disease Risk Factors , Biomarkers
10.
Rheumatol Int ; 32(12): 4057-9, 2012 Dec.
Article in English | MEDLINE | ID: mdl-21918898

ABSTRACT

Henoch-Schönlein purpura (HSP) is a small vessel vasculitis with IgA dominant immune complex deposition. It is characterized by a triad of palpable purpura (without thrombocytopenia), abdominal pain and arthritis. Uveitis is rarely associated with HSP with only 3 cases reported in literature. All these cases were in adult population and were associated with nephritis. However, this association is not reported in paediatric age group. We are reporting a case of an 11-year-old child of recurrent HSP with uveitis.


Subject(s)
IgA Vasculitis/complications , Uveitis/complications , Arthritis/complications , Child , Humans , Male
11.
Indian J Sex Transm Dis AIDS ; 43(1): 77-79, 2022.
Article in English | MEDLINE | ID: mdl-35846540

ABSTRACT

Abnormal vaginal discharge is common among the females of the reproductive age group. Vulvovaginitis caused by azole-resistant Candida albicans is rare. Recurrent vulvovaginal candidiasis (RVVC) causes significant patient distress and morbidity. The vaginal microflora is a complex micro-ecological environment comprising different microbiological species in variable quantities and relative proportions. Any disturbance in the aforesaid causes vaginitis, for instance, aerobic vaginitis (AV) results from the displacement of healthy vaginal Lactobacillus species with aerobic pathogens. We report AV with RVVC caused by C. albicans resistant to even second generation azoles which has not been previously reported to the best of our knowledge.

12.
Indian J Dermatol ; 67(1): 92, 2022.
Article in English | MEDLINE | ID: mdl-35656272

ABSTRACT

Importance: Exact etiopathogenesis of chronic spontaneous urticaria (CSU) remains elusive. Infections, pseudoallergens, autoimmunity, and contact sensitization are various postulated factors. Few studies are available measuring cytokine levels in CSU. Objectives: The aim was to study various etiological factors of CSU and levels of IL-6 and IFN-ϒ in cases and controls, and correlation between various etiologies with the levels of the abovementioned interleukins in the cases. Design: Case-control study performed over 2 years with no follow-up of the participants. Setting: It was a referral-center-based study. Participants: Sixty patients of CSU and equal age and sex-matched healthy controls were recruited on the basis of convenience sampling. Exposures: Biochemical and hematological investigations with hepatitis serology, thyroid function tests, anti-thyroid antibodies, and levels IL-6 and IFN-ϒ were performed in all cases and controls. All cases were subjected to ASST. Cases with all above negative tests were patch-tested with Indian standard series. Urticaria activity score (UAS7) was calculated for all the cases and repeated in patients with positive etiological factor after 3 weeks (improvement after allergen or drug avoidance, treatment of infection). Outcomes: To study the various etiological factors (food, infection, autoimmunity, autoreactivity, and contact sensitization) and the levels of IL-6 and IFN- γ in patients of chronic spontaneous urticaria. Results: Etiology was ascertained in 75% of patients (autoimmunity: 50%, contact sensitization: 21.67%, food and drug allergy: 1.67% each). Mean values of the interleukins and anti-thyroid antibodies were significantly higher in cases versus controls. Levels of IFN-ϒ were significantly elevated in patients with higher UAS7 scores. Conclusion: Antithyroid antibodies, ASST, and patch testing are important tools and should be considered in patients of CSU after a thorough history and history-based workup. Elevated levels of IL-6 and IFN- ϒ in cases suggest that both Th1 and Th2 type of immune responses are implicated in pathogenesis of CSU.

13.
Indian Dermatol Online J ; 13(3): 384-387, 2022.
Article in English | MEDLINE | ID: mdl-36225994

ABSTRACT

Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia with mottled pigmentation. Here we report a case of 15-year-old boy with variable (reticulate as well as diffuse) pigmentary disorder and adermatoglyphia.

14.
Indian J Sex Transm Dis AIDS ; 43(1): 66-67, 2022.
Article in English | MEDLINE | ID: mdl-35846536

ABSTRACT

Pyoderma gangrenosum (PG) is a rare neutrophilic dermatosis affecting various sites, isolated genital PG being an uncommon presentation. We report a case of a 50-year-old diabetic male who presented with 2 penile ulcers. Extensive evaluation was done for sexually and nonsexually transmitted infections, malignancy, drug-induced vasculitis, and immunobullous etiology. A diagnosis of PG was made based on the clinical findings and histopathological exclusion of other causes. The patient showed a rapid response to prednisolone, dapsone, and colchicine. This report highlights the importance of keeping PG as a differential diagnosis in cases of genital ulcers which may mimic other sexually transmitted infections.

15.
J Cutan Pathol ; 38(10): 823-6, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21592180

ABSTRACT

Amyloidosis cutis dyschromica represents a rare type of primary cutaneous amyloidosis with few reported cases worldwide. It is characterized by asymptomatic, generalized hyperpigmentation with intermingled hypopigmented macules without atrophy or telangiectasia. We report herein a 19-year-old female who developed this pigmentary abnormality at 4 years of age. Her aunt and great grandfather also had similar skin pigmentation. An unusual finding in our patient was the presence of papules in addition to characteristic macules. Amyloid deposits were shown histopathologically in both dyschromic macules and papules.


Subject(s)
Amyloidosis/pathology , Pigmentation Disorders/pathology , Skin Diseases, Vesiculobullous/pathology , Acitretin/therapeutic use , Amyloidosis/drug therapy , Amyloidosis/genetics , Family , Female , Genetic Predisposition to Disease , Humans , Keratolytic Agents/therapeutic use , Pigmentation Disorders/drug therapy , Pigmentation Disorders/genetics , Skin Diseases, Vesiculobullous/drug therapy , Skin Diseases, Vesiculobullous/genetics , Sunscreening Agents/therapeutic use , Young Adult
16.
Dermatol Surg ; 37(12): 1763-6, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21834930

ABSTRACT

BACKGROUND: Treatment of resistant vitiligo is challenging. A few well-researched studies have shown variable results with surgical and other therapeutic strategies. OBJECTIVE: To evaluate the usefulness of a less-painful method of repigmentation of vitiligo patches. PATIENTS AND METHODS: Forty vitiligo patches in 22 consecutive patients with resistant vitiligo presenting at a vitiligo clinic of a university teaching medical school in New Delhi, India, were treated with microdermabrasion followed by topical 5% 5-fluorouracil (5-FU). RESULTS: One-third of the patches showed more than 50% repigmentation, and one-fourth showed more than 75% repigmentation. Gratifying results were obtained in seven patches after a single session. CONCLUSION: Microdermabrasion is adjunctive with topical 5% 5-FU in the treatment of resistant vitiligo patches. Further well-controlled randomized trials are required to validate the observations of the study. The authors have indicated no significant interest with commercial supporters.


Subject(s)
Dermabrasion , Fluorouracil/administration & dosage , Skin Pigmentation , Vitiligo/therapy , Adolescent , Adult , Child , Combined Modality Therapy , Female , Humans , India , Male , Middle Aged , Skin Pigmentation/drug effects , Vitiligo/pathology , Young Adult
17.
Skinmed ; 9(3): 190-1, 2011.
Article in English | MEDLINE | ID: mdl-21675502

ABSTRACT

Two siblings with generalized pustular psoriasis were admitted to the hospital. Case 1: A 7-year-old girl presented with recurrent episodes of multiple pinhead-sized pustules all over her body since the age of 3. The current episode began a week prior to the onset of the lesions. On cutaneous examination, she had generalized erythema topped with tiny pustules, scales, and crusting (Figure 1A). A Gram stain performed from the pustule and cultures taken from the pus and blood were sterile. Histopathology of the pustule was suggestive of pustular psoriasis (Figure 2). Hemoglobin was 8.8 g%. Other hematologic, microbiologic, and radiologic investigations were normal. Treatment was started with methotrexate, to which she responded dramatically with reduction in appearance of new lesions, erythema, and scaling. After 4 weeks of treatment, there was almost 90% clearance of skin lesions. Case 2: A 3-year-old boy, brother of the patient in case 1, presented with similar complaints for the past week. The episode was preceded by high-grade fever. He had generalized erythema, scaling, and edema and multiple pinhead-sized pustules, some of which were arranged in an annular configuration (Figure 1B). All investigations, as in case 1, were normal except for hypocalcemia (Ca2+ = 8.8 g%) and generalized rarefaction on x-rays of both the ankle joints. Treatment was started with prednisolone (because of poor general condition) and methotrexate. Following therapy, significant improvement was evident with reduction in erythema and cessation of appearance of new pustules. The dose of prednisolone was gradually tapered after 3 weeks and then stopped.


Subject(s)
Dermatologic Agents/therapeutic use , Methotrexate/therapeutic use , Psoriasis/drug therapy , Child , Child, Preschool , Drug Therapy, Combination , Female , Glucocorticoids/therapeutic use , Humans , Male , Prednisolone/therapeutic use , Psoriasis/genetics , Psoriasis/pathology , Treatment Outcome
18.
Skinmed ; 9(2): 125-6, 2011.
Article in English | MEDLINE | ID: mdl-21548522

ABSTRACT

A 28-year-old woman presented with reddish raised, shiny lesions over the face and ears present for the past 3 years. Four years ago, she developed in her left axilla a nodule that became fluctuant and tender, which ruptured to discharge seropurulent material. It subsided after the patient had received antibiotics for 6 months, leaving puckered scarring. There was no history of antituberculous treatment. After 1 year, she developed papulonodular lesions on her face, nose, and ears. There was now a history of malaise, fever, dry cough, and anorexia and weight loss for the past 2 months. The patient was fully vaccinated in childhood, including against varicella infection. The general physical examination revealed lymphadenopathy involving cervical, axillary, and inguinal lymph nodes 0.5 x 0.5 cm to 1 x 1.5 cm, firm in consistency, and nontender. They were discrete except in the left axilla where multiple matted lymph nodes were present with overlying scarring and a papule. Her systemic examination was normal. Cutaneous examination showed a shiny erythematous plaque 3x2 cm with central atrophy and scarring on the face (Figure). It was comprised of multiple shiny nontender soft papules arranged in annular configuration. Similar discrete papules and nodules with adherent fine scaling were seen bilaterally on the alar prominence of the nose, lower lip, and post-auricular area. On diascopy, apple jelly nodules were seen. The hemogram, liver function tests, and renal function tests were normal, except for an elevated erythrocyte sedimentation rate. The Mantoux test showed erythema and an induration of 20 x 20 cm. A posteroanterior view on the chest x-ray showed fibrotic changes suggestive of pulmonary tuberculosis. Ultrasonography of the abdomen and pelvis showed no tubercular foci. Human immunodeficiency virus serology by enzyme-linked immunosorbent assay with 3 different kits was nonreactive. Histopathology from a nodule showed a focally thinned-out epidermis with follicular plugging and multiple epithelioid cell granulomas, rimmed by lymphocytes in the deeper portion of the dermis, mainly peri-appendageal. Stain for acid-fast bacteria was negative. Cultures from the skin lesions were negative. The patient was diagnosed as having lupus vulgaris with multiple lesions of varying morphology at different sites with pulmonary tuberculosis and healed lymph node involvement.


Subject(s)
Lupus Vulgaris/pathology , Tuberculosis, Lymph Node/pathology , Tuberculosis, Pulmonary/pathology , Adult , Antitubercular Agents/therapeutic use , Ear , Face , Female , Humans , Lupus Vulgaris/diagnosis , Lupus Vulgaris/drug therapy , Lymphatic Diseases/diagnosis , Lymphatic Diseases/drug therapy , Lymphatic Diseases/pathology , Tuberculosis, Lymph Node/diagnosis , Tuberculosis, Lymph Node/drug therapy , Tuberculosis, Pulmonary/diagnosis , Tuberculosis, Pulmonary/drug therapy
19.
Dermatol Online J ; 17(5): 3, 2011 May 15.
Article in English | MEDLINE | ID: mdl-21635825

ABSTRACT

Linear porokeratosis is a rare disorder of keratinization that usually presents at birth. We report a 17-year-old male with generalized linear porokeratosis, a very rare variant of porokeratosis, with extensive involvement of the trunk and extremities along with nail and genital involvement. The patient was treated with oral acitretin with excellent clinical response.


Subject(s)
Acitretin/therapeutic use , Porokeratosis/drug therapy , Adolescent , Humans , Hyperpigmentation/etiology , Male , Nail Diseases/etiology , Porokeratosis/diagnosis , Porokeratosis/pathology , Precancerous Conditions/diagnosis , Precancerous Conditions/drug therapy , Precancerous Conditions/pathology
20.
Dermatol Online J ; 17(4): 7, 2011 Apr 15.
Article in English | MEDLINE | ID: mdl-21549082

ABSTRACT

UNLABELLED: Dorfman-Chanarin syndrome (DCS) is a very rare disorder of lipid metabolism that exhibits an autosomal recessive pattern of inheritance. Besides ichthyosis, systemic manifestations may be present. We report two female siblings with DCS who presented with non-bullous ichthyosiform erythroderma (NBIE). A peripheral blood smear demonstrated Jordan anomaly. This case emphasizes the need for peripheral blood smear screening in patients with congenital ichthyosis. CASE REPORT: A 2½-year-old female child and her 1-month-old sibling presented with generalized erythema and scaling, which was suggestive of NBIE. Hepatomegaly and ectropion were seen in the older sibling. A peripheral blood smear of both the patients revealed Jordan anomaly. Serum biochemistry revealed abnormal liver function tests, abnormal lipid profile, and elevated muscle-derived enzymes. A diagnosis of Dorfman-Chanarin syndrome was made in both the siblings. Screening for Jordan anomaly in the family members including the parents and maternal and paternal grandmothers was negative. CONCLUSION: The peculiarities in our case include the presence of this disorder in both female siblings along with alopecia in the younger sibling. Hyperlipidemia, noted in one of our cases, is also not a common association. Diagnosing DCS is fairly simple and a high index of suspicion may lead to higher rates of detection of this rare disorder.


Subject(s)
Ichthyosiform Erythroderma, Congenital/diagnosis , Ichthyosis, Lamellar/diagnosis , Lipid Metabolism, Inborn Errors/diagnosis , Muscular Diseases/diagnosis , Child, Preschool , Emollients/therapeutic use , Female , Humans , Ichthyosiform Erythroderma, Congenital/blood , Ichthyosis, Lamellar/blood , Ichthyosis, Lamellar/diet therapy , Ichthyosis, Lamellar/drug therapy , Infant , Lipid Metabolism, Inborn Errors/blood , Lipids/blood , Liver Function Tests , Muscle, Skeletal/enzymology , Muscular Diseases/blood , Siblings
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