ABSTRACT
Resumen Introducción: La epidermólisis bullosa adquirida es una enfermedad ampollar subepidérmica autoinmune, rara y crónica caracterizada por la formación de autoanticuerpos contra colágeno tipo VII. La presentación en la infancia es poco frecuente y con manifestaciones variables. Caso clínico: Se describe el caso de una paciente de sexo femenino de 12 años de edad que presentó lesiones ampollares y polimórficas en tórax y extremidades de varios meses de evolución. Por las características de las lesiones cutáneas, se realizó un estudio histopatológico y de inmunofluorescencia directa que confirmó el diagnóstico de epidermólisis bullosa adquirida, por lo que se administró tratamiento con corticoide y dapsona, con una respuesta clínica favorable durante el seguimiento. Conclusiones: La epidermólisis bullosa adquirida es inusual en la edad pediátrica. Por tanto, debe considerarse en el diagnóstico diferencial de otras enfermedades ampollares congénitas y adquiridas de la infancia. El diagnóstico definitivo se realiza a través del estudio de inmunofluorescencia, lo que permite instaurar rápidamente un tratamiento rápido y eficaz para controlar la enfermedad y evitar secuelas permanentes.
Abstract Background: Acquired epidermolysis bullosa is a rare and chronic autoimmune subepidermal bullous disease characterized by the formation of autoantibodies against type VII collagen. Presentation in childhood is rare and with several manifestations. Case report: We report the case of a 12-year-old female patient who presented bullous and polymorphic lesions on the chest and extremities of several months of evolution. Due to the characteristics of the skin lesions, a histopathological and direct immunofluorescence study was conducted, confirming the diagnosis of acquired epidermolysis bullosa. Subsequently, corticosteroid and dapsone treatment was administered, with favorable clinical response during follow-up. Conclusions: Acquired epidermolysis bullosa is unusual in pediatric age, so it should be considered in the differential diagnosis of other congenital and acquired bullous diseases of childhood. The definitive diagnosis is performed through an immunofluorescence, study, which allows for rapid and effective treatment to control the disease and avoid permanent sequelae.
ABSTRACT
Objective To evaluate the value of indirect immunofluorescence (IIF) on three different substrates including normal human skin (NS),monkey esophagus (ME) and salt-split human skin (SS) in the diagnosis of autoimmune subepidermal bullous diseases.Methods A total of 56 patients with autoimmune subepidermal bullous diseases,including 47 with bullous pemphigoid (BP),6 with epidermolysis bullosa acquisita (EBA),2 with linear IgA bullous dermatosis,and 1 with anti-P200 pemphigoid,were diagnosed in and enrolled from Department of Dermatology,Institute of Dermatology,Chinese Academy of Medical Sciences between January 2015 and December 2016.Seventy patients with pemphigus,15 patients with chronic eczema and 15 healthy adults served as controls.Blood samples collected from these patients and controls were subjected to IIF on three different substrates including NS,ME and SS,and the fluorescence deposition was observed.The sensitivities and specificities of IIF in the diagnosis of different subepidermal bullous diseases were compared.Statistical analysis was carried out with SPSS 13.0 software by using chi-square test for the comparison of enumeration data.Results IIF on NS or ME in the serum of patients with BP showed linear deposition of fluorescent material along the basement membrane zone.IIF on SS showed linear deposition of fluorescent material in the epidermis in the patients with BP,but in the dermis in the patients with EBA and anti-P200 pemphigoid.The sensitivities of IIF on NS,ME or SS in the diagnosis of subepidermal bullous diseases were 73.2％,60.7％ and 94.6％ respectively,and the specificities were 98.0％,100％ and 97.1％ respectively.There were significant differences among the sensitivities (x2 =18.2,P ＜ 0.05),but no significant difference was observed among the specificities (P ＞ 0.05).The diagnostic sensitivity of IIF on SS was significantly higher than that of IIF on NS or ME(x2 =8.0,16.7,both P ＜ 0.05).Conclusion In the diagnosis of autoimmune subepidermal bullous diseases,IIF on SS is superior to IIF on ME or NS.
ABSTRACT
Background: The subepidermal autoimmune bullous diseases are a subset of immunobullous diseases encountered less frequently in the Indian population. There is a paucity of data on the prevalence, demographic and clinicopathological spectrum of various subepidermal autoimmune bullous diseases from India. Aim: To determine the demographic and clinicopathological profi le of subepidermal autoimmune bullous diseases in Indian patients, presenting to the Immunobullous Disease Clinic of Postgraduate Institute of Medical Education and Research, Chandigarh. Methods: Patients seen from November 2013 to November 2014 who fulfi lled the preset diagnostic criteria of subepidermal autoimmune bullous diseases were identifi ed from case records. Data regarding demographic characteristics, clinical profi le, immunopathological fi ndings and treatment were collected from the predesigned proforma. Results: Of 268 cases of autoimmune bullous diseases registered, 50 (18.7%) were subepidermal autoimmune bullous diseases. Bullous pemphigoid was most frequently seen in 20 (40%) cases, followed by dermatitis herpetiformis in 14 (28%), mucous membrane pemphigoid in 6 (12%), chronic bullous dermatosis of childhood / linear immunoglobulin A bullous dermatosis in 5 (10%), lichen planus pemphigoides in 3 (6%), pemphigoid gestationis and epidermolysis bullosa acquisita in 1 (2%) case each. None of the patients had bullous systemic lupus erythematosus. Limitations: We could not perform direct and indirect immunofl uorescence using salt-split skin as a substrate and immunoblotting due to non-availability of these facilities. Therefore, misclassifi cation of subepidermal autoimmune bullous diseases in some cases cannot be confi dently excluded. Conclusion: Subepidermal autoimmune bullous diseases are not uncommon in Indian patients. Bullous pemphigoid contributes maximally to the burden of subepidermal autoimmune bullous diseases in India, similar to that in the West, although the proportion is lower and disease onset is earlier. Dermatitis herpetiformis was observed to have a higher prevalence in our population, compared to that in the West and the Far East countries. The prevalence of other subepidermal autoimmune bullous diseases is relatively low. Detailed immunofl uorescence and immunoblotting studies on larger patient numbers would help better characterize the pattern of subepidermal autoimmune bullous diseases and their features in Indian patients.
ABSTRACT
La dermatitis herpetiforme (DH) es una enfermedad crónica y ampollar caracterizada por la presencia de lesiones intensamente pruriginosas, de ubicación característica, y por asociarse en todos los casos a enfermedad celíaca (EC) (sintomática o no). Ambas entidades se consideran una expresión, en diferentes órganos, de hipersensibilidad al gluten. Se presenta una serie de cuatro pacientes de sexo femenino, con un promedio de 46 años, que consultaron por la aparición de pápulas, lesiones erosivocostrosas, excoriaciones y ampollas, pruriginosas, localizadas predominantemente en los codos, las rodillas y el dorso superior. Referían brotes intermitentes con un tiempo de evolución de entre 6 meses y 10 años. Se realizó una biopsia cutánea y estudio histopatológico que evidenció la presencia de una dermatosis ampollar subepidérmica con neutrófilos e IFD positiva en tres de las pacientes, y que confirmó el diagnóstico de dermatitis herpetiforme. Los hallazgos de laboratorio y la videoendoscopia digestiva alta con toma de biopsia fueron compatibles, en todos los casos, con enfermedad celíaca. Se les indicó dieta libre de gluten (DLG) a todas las pacientes; en una de ellas fue suficiente para lograr la remisión completa de las lesiones después de 3 meses; las tres restantes requirieron tratamiento con dapsona para controlar la enfermedad (AU)
Dermatitis herpetiformis (DH) is a chronic, bullous disease, which is characterized by intensely pruritic lesions, property location and diagnosis in all cases of celiac disease (CD) (symptomatic or not). Both entities are considered expression in different organs of hypersensitivity to gluten. A series of four female patients is presented with an average of 46 years who consulted by the appearance of papules, erosivocostrosas injuries, abrasions and blisters, itchy, localized predominantly on elbows, knees and upper back. Intermittent outbreaks concerned with evolution time between 6 months and 10 years. IFD positive skin biopsy and histopathological study showed subepidermal bullous dermatosis with neutrophils was performed, and in three of the patients confirmed the diagnosis of dermatitis herpetiformis. Laboratory findings and upper gastrointestinal video endoscopy with biopsy were compatible in every case with celiac disease. Gluten-free diet in all patients indicated, one of them was enough to achieve complete remission of lesions after three months; the remaining three required starting dapsone for disease control (AU)
Subject(s)
Humans , Female , Middle Aged , Celiac Disease , Dermatitis Herpetiformis/diagnosisABSTRACT
Subepidermal calcified nodule is a rare form of calcinosis cutis, which is not associated with any dermatologic or systemic diseases, and usually presents as a solitary hard nodule on the face or neck of children. A 25-month-old boy had a small pea-sized, tender nodule on his left sole that had been present for several months. There was no history of previous trauma or systemic illness. The clinical diagnosis as a viral wart was initially made and treated with cryotherapy. Because the lesion was not clear and a yellow-white firm papule was seen after cryotherapy, punch excision was done. Histologic examination showed cystic structure with calcium deposition in the upper dermis. Herein, we present the findings of a patient with a rare, solitary subepidermal calcified nodule on the sole.
Subject(s)
Child , Child, Preschool , Humans , Male , Calcinosis , Calcium , Cryotherapy , Dermis , Diagnosis , Neck , WartsABSTRACT
Subepidermal calcified nodule is an unusual type of idiopathic calcinosis cutis and usually presents as an asymptomatic, solitary, firm, verrucous, white or yellowish nodule. It commonly occurs in young children, generally on the face and neck, especially eyelid, cheek. However, sole is a very rare site. Four patients presented with several months??history of solitary 2~3 mm sized firm nodule on the sole. Three of the patients were less than 1 year old, with no history of trauma. Histopathologic examination revealed hyperkeratosis, acanthosis and amorphous basophilic material in cystic space beneath the epidermis, meaning deposition of calcium salt. These histopathologic features were consistent with subepidermal calcified nodule. Serum calcium and phosphorus levels of the patients were within normal limits. Herein, we present 4 cases of subepidermal calcified nodule on the sole, an atypical location.
Subject(s)
Child , Humans , Basophils , Calcinosis , Calcium , Cheek , Epidermis , Eyelids , Neck , PhosphorusABSTRACT
Introduction: Lichen planus pemphigoides (LPP) is a rare acquired autoimmune disease characterised by the evolution of subepidermal blisters on normal and lichen planus affected skin. Case summary: We describe a case of lichen planus pemphigoides in a 54-year-old Chinese woman. The patient presented initially with scaly psoriasiform plaques and was diagnosed to have guttate psoriasis. She was treated with narrowband ultraviolet (NBUVB) therapy twice weekly. Within a month of starting phototherapy, she experienced a flare up of her skin lesions with a generalised eruption of violaceous papules, tense bullae over the lower limbs as well as Wickham’s striae over the buccal mucosa. Histology of the violaceous papule over abdomen revealed interface dermatitis, while the specimen from a blister showed subepidermal bulla with linear deposition of IgG and C3 along the basement membrane zone. A diagnosis of LPP was made on clinicopathological grounds. The patient subsequently responded well to oral prednisolone at a dose of 0.5 mg/kg/day. Conclusion: This is the first case report of NBUVB alone unmasking LPP. In the presentation, we will describe the pathological mechanism of NBUVB in the development of LPP and the key features distinguishing LPP from bullous lichen planus (BLP), psoriasis and bullous pemphigoid (BP).
ABSTRACT
Subepidermal calcified nodule is an uncommon form of calcinosis cutis, which most commonly occurs in children. It usually presents as an asymptomatic, solitary verrucous nodule on the head and neck region, but occasionally as multiple lesions. Serum calcium and phosphorus levels are usually normal. Histopathology shows well-formed homogeneous eosinophilic material and granules in the upper dermis. Material in the dermis stained with von Kossa was positive. We report on an unusual case of a subepidermal calcified nodule occurring on the sole. A 21-month-old male presented with an oval-shaped, whitish, hard nodule measuring 5x5 mm on the left sole, without any previous history of trauma.
Subject(s)
Child , Humans , Infant , Male , Calcinosis , Calcium , Dermis , Eosinophils , Head , Neck , PhosphorusABSTRACT
BACKGROUND: The 180kD bullous pemphigoid antigen (BP180) is known to be recognized by sera from patients with bullous pemphigoid (BP), herpes gestationis (HG), and cicatricial pemphigoid (CP). A series of previous studies using BP180 recombinant proteins has shown that most sera from patients with BP and HG react with the NC16a domain of BP180. OBJECTIVE: This study was performed to compare the immunoblotting results by using human epidermal extracts and by using recombinant protein of BP180 NC16a domain in the diagnosis of subepidermal bullous skin diseases. METHOD: We observed the reactivity with the epidermal extract of normal human foreskin and recombinant protein of BP180 NC16a domain in immunoblotting assay. RESULTS: In immunoblotting with epidermal extract, 7(78%) and 6(67%) of the 9 BP sera reacted with BP230 and BP180, respectively. 1(50%) of the 2 HG and 2(100%) of the 2 CP sera reacted with BP180. In immunoblotting with recombinant protein of BP180 NC16a domain, 8(89%) of the 9 BP sera and 2(100%) of the 2 HG sera were immunoreactive. But, none of the CP and pemphigus sera reacted with the recombinant protein. CONCLUSION: The immunoblotting analysis using BP180 NC16a domain is a highly sensitive method without ambiguity in the diagnosis of subepidermal bullous skin diseases, and also is useful for the differential diagnosis of BP and HG from CP.
Subject(s)
Humans , Diagnosis, DifferentialABSTRACT
Subepidermal calcified nodule is a rather uncommon, but peculiar subtype of calcinosis cutis. It presents as a single asymptomatic, hard, yellowish white nodule which commonly occurs on the face of children. Histopathologic examination reveals the multifocal various-sized papillary dermal collection of dark blue amorphous globular deposits confirmed by von Kossa stain for calcium. We report a 42-year-old man who had small white hyperkeratotic papule on finger tip for more than 20 years. He could recall neither preceding trauma nor systemic illness. Excisional biopsy, with the clinical impression of verruca or corn, showed typical histopathologic features of the subepidermal calcified nodule.
Subject(s)
Adult , Child , Humans , Biopsy , Calcinosis , Calcium , Fingers , Warts , Zea maysABSTRACT
Subepidermal calcified nodule, a subset of calcinosis cutis, is usually presented as single small, raised, hard nodule. Histologically calcium deposition can be detected by von Kossa or periodic acid-Schiff stain. We report a 3-year-old boy who had erythematous hyperkeratotic plaques and papules on both inner thighs without any previous history of trauma, genetic or systemic illness. A biopsy specimen of plaque of the thigh showed the transepidermal elimination of basophilic granules which were dispersed in the upper dermis and von Kossa stain revealed scattered calcific deposition.
Subject(s)
Child, Preschool , Humans , Male , Basophils , Biopsy , Calcinosis , Calcium , Dermis , ThighABSTRACT
Anti-p200 pemphigoid is a newly defined autoimmune subepidermal blistering disease, which is characterized by the presence of IgG autoantibodies to the dermal side of 1M NaCl split skin as well as by the reactivity of these antibodies to a novel 200-kDa antigen on immunoblot analysis of a dermal extract. We describe a 49-year-old Korean male who presented with a bullous eruption on the whole body, which clinically resembled bullous pemphigoid or epidermolysis bullosa acquisita. A histopathological examination of a lesional skin biopsy specimen showed an area of dermal-epidermal separation and mixed dermal inflammatory infiltrates consisting of lymphocytes, neutrophils, and eosinophils. Direct immunofluorescence showed a linear deposition of IgG and C3 along the basement membrane zone. Indirect immunofluorescence demonstrated circulating IgG autoantibodies directed against the dermal side of the 1M NaCl split skin. Immunoblot analysis of dermal extracts revealed the patient's sera recognized the 200-kDa antigen. This is the first Korean case of an anti-p200 pemphigoid who showed good response to the treatment with systemic corticosteroids and dapsone.
Subject(s)
Humans , Male , Middle Aged , Autoantibodies/immunology , Pemphigoid, Bullous/diagnosisABSTRACT
Subepidermal calcified nodule, a form of idiopathic calcinosis cutis, typically present as a hard, 3 to 11 mm, solitary lesion on the exposed area of the head and the extremities. Here we re-port an unusual case of subepidermal calcified nodule occurring on the buttock. A 15-year-old girl presented with a 6-month history of a 12 × 6 mm, oval, hard, erythematous nodule on the right buttock. Histopathologic examination of an excision biopsy specimen revealed extensive deposition of calcium in the whole dermis as large multilobulated masses.
Subject(s)
Adolescent , Female , Humans , Biopsy , Buttocks , Calcinosis , Calcium , Dermis , Extremities , HeadABSTRACT
The subepidermal calcified nodule, also known as a form of calcinosis cutis, is characterized by solitary circumscribed deposits of insoluble calcium within the subepidermis. The disease is not associated with any systemic or cutaneous diseases, or any biochemical abnormalities. The pathogenesis is still unknown. A 55-year-old female presented with a 4-month history of solitary skin-colored, hyperkeratotic papule on the left upper eyelid. The lesion was asymptomatic and had increased slowly in size. It is interesting that excisional biopsy showed typical histopathologic features of the subepidermal calcified nodule and the clear cell syringoma.
Subject(s)
Female , Humans , Middle Aged , Biopsy , Calcinosis , Calcium , Eyelids , SyringomaABSTRACT
Subepidermal calcified nodule(SCN) is a form of calcinosis cutis which is usually present as a single small, raised, hard nodule with verrucous surface. A 13-year-old girl presented with a 10-month history of a ricegrain-sized, hard, yellowish white papule on both upper eyelids. The lesions were asymptomatic and had increased slowly in size. An excisional biopsy specimen of the left upper eyelid showed acanthosis and narrow pointed rete ridges of the epidermis, and closely aggregated deposition of basophilic material in the uppermost dermis. The material in the dermis did not stain with von Kossa. It was confirmed as calcium deposition by staining with alizarin red S which is far more specific for calcium than the von Kossa stain.
Subject(s)
Adolescent , Female , Humans , Basophils , Biopsy , Calcinosis , Calcium , Dermis , Epidermis , EyelidsABSTRACT
We report a 34-year-old woman and a 16-year-old girl who had a soft fibroma with blister on the thigh and on the back, respectively. Histopathologically, in the biopsy of both tumors, a subepidermal blister overlying the tumor and the degeneration of the epidermis were observed without any evidence of dermal degeneration. The major cause of the blister formation seems to be ischemia due to twisting or compression of the neck of the soft fibroma.
Subject(s)
Adolescent , Adult , Female , Humans , Biopsy , Blister , Epidermis , Fibroma , Ischemia , Neck , ThighABSTRACT
Subepidermal calcified nodule, a form of calcinosis cutis, usually occurs as a solitary lesion and develops in early childhood. We report a 20-month-old boy with an unusual form of subepidermal calcified nodules on both palms and soles which were multiple and present at birth. Interestingly, his uncle had similar lesions during infancy which had shown spontaneous remission.