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. A 26yearold woman with tuberous sclerosis complex had numerous cutaneous manifestations and systemic manifestations that included subependymal nodules, pulmonary. Cutaneous hamartoma formation occurs secondary to loss of function of either the tsc1 or tsc2 gene in fibroblastlike cells and. Pathology outlines subependymal giant cell astrocytoma. 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. Tuberous sclerosis complex diagnostic criteria update. This domeshaped lesion on biopsy shows large spindleshaped fibroblasts in the dermis and a characteristic perifollicular concentric fibrosis giving an onionskin pattern. Shagreen patch is a collagenoma variant associated with tuberous. This characteristic distribution and pathology help distinguish the shagreen patch and collagenomas in tsc patients from connective tissue nevi associated with. 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. Tuberous sclerosis is an autosomal dominant neurocutaneous disorder with hamartomas is the cns, skin, organ. Giant shagreen patch in tuberous sclerosis complex ncbi. It was established in 1977 and is published monthly by wileyblackwell.
Tuberous sclerosis complex tsc is a wellknown clinical entity, characterized by facial angiofibroma, shagreen patch, and hypomelanotic, and confettilike skin lesions. It should be considered in clinical examination of suspected cases of tsc with relevant histopathology to confirm the lesion. Slowly evolving angiofibroma affecting the mid face, shagreen patch, and hypomelanotic, confettilike lesions should arouse suspicion. The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system.
Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. The prominence of slightly depressed hair follicles is characteristic, giving it an orange peel or pigskinlike appearance. A rare occurrence of shagreen patch on the face of a pediatric. The pulmonary involvement appears as a bilateral interstitial diffuse fibrosis, which is supported by evidence of reduced membrane permeability and hypoxemia, aggravated by exercise. Tuberous sclerosis complex tsc is an autosomal dominant neurocutaneous syndrome that leads to hamartoma formation in multiple organs, including the skin curatolo et al. Shagreen patches are observed in about 50% of individuals with tsc and typically have. Extraordinary cutaneous association with neurofibromatosis in two.
Although unusual in its size and appearance, we could ascertain the collagenoma in this patient clinically and histopathologically as shagreen patch. Quality assurance in histopathology, the journal of. Disease manifestations continue to develop over the lifetime of an affected individual. Treatment may consist of planing of an elevated shagreen patch with a reese dermatome andor laser treatment of facial angiofibromas. Hamartomas are noncancerous malformations composed of an overgrowth of the cells and tissues that normally occur in the affected area and include naevi. It consists of broad bundles of collagen with only a few interspersed fibroblasts.
Early morphea simulating patchstage mycosis fungoides. Very fine facial adenoma sebaceum in a butterfly distribution were present as was a shagreen patch below the. Although significant advances have been made in the past 15 years in the understanding and treatment of tuberous. Tuberous sclerosis is also known as bourneville disease or epiloia, which stands for epilepsy, low intelligence and angiofibromas.
Collagenoma, shagreen patch, tuberous sclerosis complex. The basal layers show heavy pigmentation, an increase in melanin pigment in the basal cell layer. Anatomic location of connective tissue nevi in patients with tuberous. Histopathology aided with massons trichome stain confirmed the diagnosis of collagenoma. Fatty foci in the myocardium in patients with tuberous. In this case report we report a characteristic skin lesion, the shagreen patch in a sixyearold. The child also had a large hypopigmented patch giant ashleaf macule. Periosteal thickening without cystic changes in the. 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. 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. 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. Clinical characteristics of connective tissue nevi in tuberous.
Histopathology is an international journal intended to be of practical value to surgical and diagnostic histopathologists, and to investigators of human disease who employ. Clinical observation, tuberous sclerosis complex1, report by chinese medical journal. 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. Histopathological examination of an incisional biopsy taken from the plaque. Cystic disorders can present during infancy, childhood, or adulthood. The inherited ones include familial cutaneous collagenoma and shagreen patch of tuberous sclerosis, whereas eruptive and isolated collagenomas comprise the acquired ones. Gradually, the patch increased in size and progressed to involve the other side.
Crocodile shagreen classically appears as bilateral, symmetric, polygonal opacities within the central posterior corneal stroma. A 46yearold woman presented with multiple, skincolored, hyperpigmented, domeshaped facial papules. The kidneys may be affected with tumor formation of fat, vascular and connective tissue. Skin manifestations of tuberous sclerosis journal of biological. Tuberous sclerosis is an uncommon disorder, which has a variable clinical presentation. Scalp swelling was found and confirmed to be shagreen patch by the histopathology findings. The pulmonary functional defect is progressive as measured during the last six years, although the patient herself has shown only. Skin examination revealed fleshcolored periungual fibromas koenens tumors on proximal nails and a plaque measuring 11. Shagreen patch, also called collagenoma, is named after a type of leather. 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. In the absence of these 2 signssymptoms, physicians should still consider the diagnosis when presented with varied dermatologic conditions. Tuberous sclerosis was so named because of the potatolike consistency of the gyri with hypertrophic sclerosis.
Cd70 and pdl1 in anaplastic thyroid cancer promising targets for immunotherapy pages 357365. A 19yearold previously healthy woman was referred for microhematuria and moderate hypertension. Foci were well circumscribed and focal and located in the interventricular septum, left ventricle wall, right ventricle wall, and papillary muscles. Nipple angiofibromas with loss of tsc2 are associated with. Tuberous sclerosis george a, kanish b, bhatia a indian. Europe pmc is an archive of life sciences journal literature. Involvement of the lungs in tuberous sclerosis chest. Histopathological analysis of a biopsy of an elevated skincolored plaque at the lower back was diagnostic for a shagreen patch. A patient with tuberous sclerosis with involvement of the lungs is presented.
An exquisite fresh case is being narrated, emphasizing its microscopic pathology. 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. A 28yearold male patient with nail tumors, skin lesions, and. A rare occurrence of shagreen patch on the face of apediatric patient with tuberous sclerosis. However, as time elapsed, welldeveloped lesions revealed clinical and histopathologic features diagnostic of morphea.
Nevertheless, its diagnosis needs to be supplemented by histopathology. There are only few such reports of giant shagreen patch in literature which prompted us to report the case. International journal of case reports and images ijcri international journal of case reports and images ijcri is. Although unusual in its size and appearance, we could ascertain the collagenoma in. Giant shagreen patch in tuberous sclerosis complex. It is the largest, most influential and representative dermatology group in the united states. Health, general cancer metastasis diagnosis research cat scans usage ct imaging glass products. Astrocytic hamartoma in tuberous sclerosis mimicking. Shagreen patch of tuberous sclerosis pediatric oncall. Tuberous sclerosis complex bourneville disease christopher t cassetty md dermatology online journal 10 3.
Histopathology of patch shows mild hyperkeratosis and elongation of rete ridges. Read quality assurance in histopathology, the journal of pathology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Ultrasound of the abdomen revealed multiple small renal angiomyolipomas and brain magnetic. Tuberous sclerosis with shagreen patch over the face patvekar ma. Although tuberous sclerosis complex is a wellknown genetic disorder, its reporting is sporadic.
In conclusion, scalp shagreen patch is an unusual presentation of. Dermoscopy of sp showed reddishbrown strands with white dots giving a cobblestone appearance fig. Multiple randomly distributed pits in dental enamel hamartomatous rectal polyps bone cysts. 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. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease. The histopathological classification, diagnosis and differential diagnosis of mucinous appendiceal neoplasms, appendiceal adenocarcinomas and pseudomyxoma peritonei pages 847858. We report a rare case of shagreen patch over the face in a patient of tuberous. The doughy plaque was suspected to be a folliculocystic and collagenous hamartoma fcch, which was confirmed on histopathology figure 2a,b. The 2012 international tuberous sclerosis complex consensus group, comprising 79 specialists. Sample for histopathology was collected from a representative lesion on the lumbosacral region. In conclusion, scalp shagreen patch is an unusual presentation of tsc. There are several unusual features, including myocardial and renal lipomata which are rarely reported in ts.
Perelman department of dermatology, new york university abstract. Tuberous sclerosis is associated with seizures and mental retardation. Giant shagreen patch in tuberous sclerosis complex kuntoji. 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. Clinical image of shagreen patch on the right ramus of mandible. Lesions were equally distributed on the right and left except for large shagreen patches that predominated on the left 9, left. Cutaneous manifestations of tuberous sclerosis europe. A rare occurrence of shagreen patch on the face of a.
The shagreen patch of tuberous sclerosis cannot be differentiated clinically and histologically from an. The american academy of dermatology was founded in 1938. Skin biopsy was taken from mandibular lesion and histopathology showed papillomatosis and. Fibrous cephalic plaques in tuberous sclerosis complex. Ct results demonstrated foci of fat attenuation within the myocardium in 35 64% of 55 patients with tsc. Declaration of patient consent the authors certify that they have obtained all appropriate patient consent forms. Connective tissue nevus an overview sciencedirect topics. Astrocytic hamartoma in tuberous sclerosis mimicking necrotizing retinochoroiditis. 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. Histopathology of the biopsy done from the plaque over lumbosacral area showing dense. Tuberous sclerosis complex is highly variable in clinical presentation and findings. Renal cystic diseases encompass a broad group of disorders with variable phenotypic expression. Tuberous sclerosis sue ann wee md, bill fangman md dermatology online journal 1. The presence of a shagreen patch was retained as a major feature, but the criterion was updated.
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