The child also had a large hypopigmented patch giant ashleaf macule. Sample for histopathology was collected from a representative lesion on the lumbosacral region. The histopathological classification, diagnosis and differential diagnosis of mucinous appendiceal neoplasms, appendiceal adenocarcinomas and pseudomyxoma peritonei pages 847858. Astrocytic hamartoma in tuberous sclerosis mimicking necrotizing retinochoroiditis. Although unusual in its size and appearance, we could ascertain the collagenoma in. The inherited ones include familial cutaneous collagenoma and shagreen patch of tuberous sclerosis, whereas eruptive and isolated collagenomas comprise the acquired ones. Shagreen patch of tuberous sclerosis pediatric oncall. Renal cystic diseases encompass a broad group of disorders with variable phenotypic expression. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease. However, as time elapsed, welldeveloped lesions revealed clinical and histopathologic features diagnostic of morphea. Treatment may consist of planing of an elevated shagreen patch with a reese dermatome andor laser treatment of facial angiofibromas.
Ultrasound of the abdomen revealed multiple small renal angiomyolipomas and brain magnetic. In conclusion, scalp shagreen patch is an unusual presentation of. There are only few such reports of giant shagreen patch in literature which prompted us to report the case. Tuberous sclerosis was so named because of the potatolike consistency of the gyri with hypertrophic sclerosis. A rare occurrence of shagreen patch on the face of a pediatric. A 26yearold woman with tuberous sclerosis complex had numerous cutaneous manifestations and systemic manifestations that included subependymal nodules, pulmonary. A patient with tuberous sclerosis with involvement of the lungs is presented. There are several unusual features, including myocardial and renal lipomata which are rarely reported in ts. The pulmonary functional defect is progressive as measured during the last six years, although the patient herself has shown only. The kidneys may be affected with tumor formation of fat, vascular and connective tissue. The pulmonary involvement appears as a bilateral interstitial diffuse fibrosis, which is supported by evidence of reduced membrane permeability and hypoxemia, aggravated by exercise. Histopathology of patch shows mild hyperkeratosis and elongation of rete ridges. International journal of case reports and images ijcri international journal of case reports and images ijcri is. Cd70 and pdl1 in anaplastic thyroid cancer promising targets for immunotherapy pages 357365.
Gradually, the patch increased in size and progressed to involve the other side. In the absence of these 2 signssymptoms, physicians should still consider the diagnosis when presented with varied dermatologic conditions. Histopathology is an international journal intended to be of practical value to surgical and diagnostic histopathologists, and to investigators of human disease who employ. The presence of a shagreen patch was retained as a major feature, but the criterion was updated.
Often, but not always, they can be distinguished by the clinical features including age at presentation, renal imaging characteristics, including cyst distribution, and the presencedistribution of extrarenal manifestations. Connective tissue nevus an overview sciencedirect topics. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type. Clinical characteristics of connective tissue nevi in tuberous. Slowly evolving angiofibroma affecting the mid face, shagreen patch, and hypomelanotic, confettilike lesions should arouse suspicion. It should be considered in clinical examination of suspected cases of tsc with relevant histopathology to confirm the lesion. The 2012 international tuberous sclerosis complex consensus group, comprising 79 specialists. In addition to these features, with similarities to the shagreen patch of tsc, lesions frequently showed focal areas that were histopathologically similar to angiofibroma, perifollicular fibroma, fibrofolliculoma, or. Shagreen patches are observed in about 50% of individuals with tsc and typically have. Tuberous sclerosis with shagreen patch over the face patvekar ma. Tuberous sclerosis is also known as bourneville disease or epiloia, which stands for epilepsy, low intelligence and angiofibromas. Tuberous sclerosis is associated with seizures and mental retardation. A 28yearold male patient with nail tumors, skin lesions, and. Periosteal thickening without cystic changes in the.
Tuberous sclerosis complex diagnostic criteria update. Lesions were equally distributed on the right and left except for large shagreen patches that predominated on the left 9, left. Shagreen patch connective tissue nevus multiple retinal nodular hamartomas cortical tuber subependymal nodule subependymal giant cell astrocytoma cardiac rhabdomyoma, single or multiple lymphangiomatosis renal angiomyolipoma minor features. Tuberous sclerosis sue ann wee md, bill fangman md dermatology online journal 1. Cystic disorders can present during infancy, childhood, or adulthood. The prominence of slightly depressed hair follicles is characteristic, giving it an orange peel or pigskinlike appearance. Tuberous sclerosis is a neurocutaneous syndrome characterized by a clinical spectrum varying from severe mental retardation and incapacitating seizures to normal intelligence and lack of seizures. Histopathology of the biopsy done from the plaque over lumbosacral area showing dense. Clinical image of shagreen patch on the right ramus of mandible. Anatomic location of connective tissue nevi in patients with tuberous.
In conclusion, scalp shagreen patch is an unusual presentation of tsc. Nipple angiofibromas with loss of tsc2 are associated with. Very fine facial adenoma sebaceum in a butterfly distribution were present as was a shagreen patch below the. Clinical observation, tuberous sclerosis complex1, report by chinese medical journal. A rare occurrence of shagreen patch on the face of a. Scalp swelling was found and confirmed to be shagreen patch by the histopathology findings. Histopathological analysis of a biopsy of an elevated skincolored plaque at the lower back was diagnostic for a shagreen patch. The shagreen patch of tuberous sclerosis cannot be differentiated clinically and histologically from an. It consists of broad bundles of collagen with only a few interspersed fibroblasts.
Giant shagreen patch in tuberous sclerosis complex ncbi. Hamartomas are noncancerous malformations composed of an overgrowth of the cells and tissues that normally occur in the affected area and include naevi. Skin biopsy was taken from mandibular lesion and histopathology showed papillomatosis and. Tuberous sclerosis complex tsc is a rare multisystem autosomal dominant genetic disease that causes noncancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. The doughy plaque was suspected to be a folliculocystic and collagenous hamartoma fcch, which was confirmed on histopathology figure 2a,b. Fibrous cephalic plaques in tuberous sclerosis complex. Dermoscopy of sp showed reddishbrown strands with white dots giving a cobblestone appearance fig. Declaration of patient consent the authors certify that they have obtained all appropriate patient consent forms. Although tuberous sclerosis complex is a wellknown genetic disorder, its reporting is sporadic. Giant shagreen patch in tuberous sclerosis complex. The most common findings are benign tumors in the skin, brain, kidneys, lung, and heart that lead to organ dysfunction as the normal parenchyma is replaced by a variety of cell. Foci were well circumscribed and focal and located in the interventricular septum, left ventricle wall, right ventricle wall, and papillary muscles.
Tuberous sclerosis complex is highly variable in clinical presentation and findings. Skin manifestations of tuberous sclerosis journal of biological. The basal layers show heavy pigmentation, an increase in melanin pigment in the basal cell layer. We report a rare case of shagreen patch over the face in a patient of tuberous. The american academy of dermatology was founded in 1938. Quality assurance in histopathology, the journal of. An exquisite fresh case is being narrated, emphasizing its microscopic pathology. Perelman department of dermatology, new york university abstract. Involvement of the lungs in tuberous sclerosis chest. Extraordinary cutaneous association with neurofibromatosis in two. Tuberous sclerosis george a, kanish b, bhatia a indian. This domeshaped lesion on biopsy shows large spindleshaped fibroblasts in the dermis and a characteristic perifollicular concentric fibrosis giving an onionskin pattern. With a membership of more than 19,000, it represents virtually all practicing dermatologists in the united states, as well as a growing number of international dermatologists.
Shagreen patch tuberous sclerosis acquired collagenoma 1. Histopathological examination of an incisional biopsy taken from the plaque. Tuberous sclerosis complex tsc is a wellknown clinical entity, characterized by facial angiofibroma, shagreen patch, and hypomelanotic, and confettilike skin lesions. It is the largest, most influential and representative dermatology group in the united states. Astrocytic hamartoma in tuberous sclerosis mimicking. Europe pmc is an archive of life sciences journal literature. The opacities have indistinct edges with intervening clear spaces. Dermoscopy of shagreen patch showed reddishbrown strands with white dots giving a cobblestone appearance it can be utilized as a diagnostic aide in the diagnosis of shagreen patch. Giant shagreen patch in tuberous sclerosis complex kuntoji. Multiple randomly distributed pits in dental enamel hamartomatous rectal polyps bone cysts. Tuberous sclerosis is an uncommon disorder, which has a variable clinical presentation. Although significant advances have been made in the past 15 years in the understanding and treatment of tuberous. Disease manifestations continue to develop over the lifetime of an affected individual. The authors report an unusual case of early morphea misdiagnosed as patchstage poikilodermatous mycosis fungoides mf based on the initial clinical, histopathologic, and molecular findings.
Norman j carr, frederic bibeau, robert f bradley, peggy dartigues, roger m feakins, kim r geisinger, xianyong gui, sylvie isaac, massimo milione, joseph misdraji, reetesh k pai, manuel rodriguezjusto, leslie h. Tuberous sclerosis or tuberous sclerosis complex tsc is a genetic disorder that is characterised by hamartomas in many organs, but particularly the skin, brain, eye, kidney and heart. Shagreen patch is a collagenoma variant associated with tuberous. Although unusual in its size and appearance, we could ascertain the collagenoma in this patient clinically and histopathologically as shagreen patch. Tuberous sclerosis complex bourneville disease christopher t cassetty md dermatology online journal 10 3. Ct results demonstrated foci of fat attenuation within the myocardium in 35 64% of 55 patients with tsc. Tuberous sclerosis is an autosomal dominant neurocutaneous disorder with hamartomas is the cns, skin, organ. Nevertheless, its diagnosis needs to be supplemented by histopathology. In this case report we report a characteristic skin lesion, the shagreen patch in a sixyearold. Cutaneous hamartoma formation occurs secondary to loss of function of either the tsc1 or tsc2 gene in fibroblastlike cells and. A rare occurrence of shagreen patch on the face of apediatric patient with tuberous sclerosis. Health, general cancer metastasis diagnosis research cat scans usage ct imaging glass products. It was established in 1977 and is published monthly by wileyblackwell. A 46yearold woman presented with multiple, skincolored, hyperpigmented, domeshaped facial papules.
This characteristic distribution and pathology help distinguish the shagreen patch and collagenomas in tsc patients from connective tissue nevi associated with. The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. Photomicrograph showing histopathology of the lesions. Early morphea simulating patchstage mycosis fungoides. Skin examination revealed fleshcolored periungual fibromas koenens tumors on proximal nails and a plaque measuring 11. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Ka sudharshana murthy, pk kiran, m suresh babu, t thippeswamy, hg ashoka, t chakravarthy department of internal medicine, jss medical college, jss university, mysore, karnataka, india. Shagreen patch, also called collagenoma, is named after a type of leather. Tuberous sclerosis complex tsc is an autosomal dominant neurocutaneous syndrome that leads to hamartoma formation in multiple organs, including the skin curatolo et al.
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