Pachydermodactyly in Two Young Girls

Abstract: Pachydermodactyly is a benign, superficial fibromatosis frequently observed in young males. We describe the condition in two young girls affected by Ehlers-Danlos syndrome (EDS) and tuberous sclerosis, respectively. We hypothesized that in the patient with tuberous sclerosis, pachydermodactyly is a clinical manifestation of the associated systemic disease, whereas obsessive-compulsive behavior is probably the main cause in the girl with EDS.     

Unilateral facial angiofibromas without other evidence of tuberous sclerosis: case report and review of the literature

Bilateral facial angiofibromas are common cutaneous manifestations of tuberous sclerosis, an autosomal-dominant disease characterized by hamartomas of multiple organs. Papules in patients with tuberous sclerosis typically appear between 4 and 10 years of age, becoming more extensive during puberty before stabilizing. We present a 28-year-old man with unilateral facial angiofibromas, which may represent a segmental form of tuberous sclerosis.     

Unilateral facial angiofibromas—a segmental form of tuberous sclerosis

Summary Multiple facial angiofibroma are thought to be a pathognomonic and common, feature of tuberous sclerosis. In contrast, it is rare to see multiple angiofibroma limited to one side of the face. We have studied a patient with multiple angiofibroma of one cheek, in order to search for other manifestations of tuberous sclerosis and to determine the histochemical identity of the angiofibroma. No evidence of other pathology known to be associated with the tuberous sclerosis complex was uncovered. Histopathology of the unilateral lesions revealed focal fibroplasias and positive cellular staining for factor XIIIa and vimentin similar to that described for bilateral angiofibroma. We suggested that the segmental expression of tuberous sclerosis, in the form of unilateral facial angiofibroma may result from a postzygotic mutation.     

Are port wines stains a feature of tuberous sclerosis?

Background Tuberous sclerosis complex is a multisystem inherited disorder characterized by the development of tumour‐like growths in brain, skin and other organs. Although cutaneous vascular anomalies are not considered a common manifestation, we have encountered co‐occurrence of port wine stains and tuberous sclerosis. Objective To assess the prevalence of port wine stain in patients with previously diagnosed tuberous sclerosis. Methods All cases diagnosed with tuberous sclerosis at two tertiary care centres from 2000 to 2009 were reviewed. Cases with clinically documented port wine stains were included for evaluation. Results Of 24 patients diagnosed with tuberous sclerosis, three (12.5%) had clinically evident port wine stains. The prevalence of port wine stains in this series of tuberous sclerosis patients was significantly higher than the 0.3% prevalence of port wine stain in the general population. Conclusion Port wine stain rate in this population was significantly greater than the expected rate. Further studies are needed to assess the frequency of port wine stains in tuberous sclerosis and to clarify whether the finding should be added to the list of cutaneous features of tuberous sclerosis.     

Tuberous sclerosis

Although tuberous sclerosis has been described with a diagnostic triad, it is not present consistently in all cases. Variety of skin manifestations were reported in tuberous sclerosis. This studay was undertaken to assess the frequency of various skin changes in tuberous sclerosis. Ten consecutive cases of tuberous sclerosis were studied. Angiofibroma was the commonest cutaneous manifestation. Atypical fibroxanthoma, dermatofibroma and neurofibroma were also noticed as interesting associations.     

Tuberous sclerosis-associated lesions of the kidney, brain, and skin are angiogenic neoplasms

BACKGROUND: Tuberous sclerosis is an autosomal dominant condition characterized by the development of benign neoplasms of the brain, kidney, and skin. Progressive growth and malignant transformation of brain and kidney lesions constitute the major cause of morbidity and mortality in adults with tuberous sclerosis. In addition, growth of skin lesions may be disfiguring to patients. OBJECTIVE: The purpose of this study was to determine whether benign tumors in patients with tuberous sclerosis are angiogenic. METHODS: Brain, kidney, and skin tumors from patients with tuberous sclerosis were stained with CD31, a specific marker of vascular endothelium. In addition, we used Northern blot analysis to demonstrate that renal angiomyolipoma cells express the potent angiogenesis stimulator vascular endothelial growth factor (VEGF). RESULTS: Brain, kidney, and skin neoplasms from patients with tuberous sclerosis are highly angiogenic. Renal angiomyolipoma cells produce the potent angiogenic factor VEGF. CONCLUSION: Benign neoplasms of patients with tuberous sclerosis are highly vascular. Our results provide a rationale for antiangiogenic therapy in the treatment and prevention of tuberous sclerosis-associated neoplasms.     

Poliosis as the first clue of tuberous sclerosis

Abstract:  Ash leaf hypopigment macules, until now, was known as earliest signs of tuberous sclerosis, unfortunately not always visible at birth. We reported herein a case of tuberous sclerosis presented with a tuft of white hair (poliosis) at birth for recommended poliosis as a useful earliest sign for detection of tuberous sclerosis in the newborn.     

Tuberöse Sklerose

With a prevalence of 1 in 6,000 births, tuberous sclerosis is a relatively frequent hamartoma and tumor syndrome inherited as an autosomal dominant trait, which manifests primarily on the skin and in the central nervous system. Decisive factors for morbidity and mortality and thus for the prognosis are the changes in the central nervous system in the form of cortical hamartomas. Treatment for many years consisted solely in using nonspecific symptomatic approaches; dermatological therapy comprised mainly laser or electroacoustic ablation of facial angiofibromas. New models of therapy hinder the pathogenesis of tuberous sclerosis. Various studies provided evidence that the macrolide rapamycin decreases growth of brain and kidney tumors by specific inhibition of mTOR kinase. Synergistic effects were observed in combination therapy with the cytokine IFN-gamma.     

Giant angiofibroma without accompanying tuberous sclerosis

Angiofibromas occur in a variety of settings but can be markers for underlying tuberous sclerosis. We report an unusual giant angiofibroma occurring in a patient without associated disease. The suggested work-up for patients with tuberous sclerosis is also reviewed.     

Management of cutaneous angiomyolipoma and its association with tuberous sclerosis

Although typically presenting renally, angiomyolipomas can rarely present in the skin. The tumors are composed of an admixture of blood vessels, smooth muscle and adipose tissue and are often seen in the setting of tuberous sclerosis. We describe a case of angiomyolipoma presenting on the thigh of a 50-year-old white female. This is the 17th reported case of cutaneous angiomyolipoma. As with all previously described cases, our patient did not present with the stigmata of tuberous sclerosis. Angiomyolipoma should be considered within the differential for subcutaneous nodules and work-up for tuberous sclerosis should not be pursued when presenting in the skin.     

Cutaneous angiomyolipomas are HMB45 negative, not associated with tuberous sclerosis, and should be considered as angioleiomyomas with fat

Angiomyolipomas are uncommon tumors in the skin. Neoplasms with the same name are more typically associated with a renal location, many in the context of tuberous sclerosis. Three cases of cutaneous angiomyolipoma are reported, which were all HMB45 negative and not associated with tuberous sclerosis. This is the first series of such tumors to be stained with HMB45. The presence of fat in histologically similar cutaneous angioleiomyomas has been previously documented and a review of 40 archival cases revealed fat in 1 case. The author proposes that cutaneous angiomyolipomas should be termed angioleiomyoma with fat to avoid confusion with unrelated non-cutaneous angiomyolipomas that are HMB45 negative and require investigation for tuberous sclerosis.     

Tuberous sclerosis

A 46-year-old woman presented with multiple, skin-colored, hyperpigmented, dome-shaped facial papules. Histopathologic examination was consistent with angiofibromas. Clinical history and examination were consistent with tuberous sclerosis. The clinical manifestations, pathogenesis, evaluation, and treatment of tuberous sclerosis are discussed.     

Pachydermodactyly: a rare form of digital fibromatosis—report of four cases

We report four patients with pachydermodactyly, a rare and poorly recognized form of digital fibromatosis characterized by asymptomatic soft-tissue swelling around one or more proximal interphalangeal joint in young men.     

Angiofibromas with multiple epidermoid cysts in tuberous sclerosis: new mutation or post‐traumatic?

Tuberous sclerosis is a genetic multisystem disorder characterized by widespread hamartomas in several organs. Clinically, more than 90% of affected patients have skin lesions including facial angiofibromas, periungual fibromas, hypomelanotic macule, etc. Periungual fibroma is one of the major diagnostic criteria of tuberous sclerosis and has the same pathology (angiofibroma) as the facial papules. We herein describe an interesting histologic variant of angiofibromas coupled with multiple epidermoid cysts in a 33‐year‐old patient with tuberous sclerosis.     

Factor XIIIa in the hamartomas of tuberous sclerosis.

Factor XIII is a blood coagulation factor which may also be produced in an intracellular location. The 'a' subunit of this factor has been found in a number of different cell types and has been shown to stimulate the proliferation of fibroblasts in vitro. We have examined cutaneous, central nervous system and renal lesions from persons with tuberous sclerosis using a standard immunohistochemical assay to see if factor XIIIa is expressed in these hamartomatous growths. We found factor XIIIa in most of the stromal cells composing the skin lesions of tuberous sclerosis as well as in cells of subependymal giant cell astrocytoma of the brain and the stromal cells in renal angiomyolipoma. Expression of factor XIIIa may be of significance in the formation of fibrous growths in tuberous sclerosis.     

Widespread angiokaeratomas and tuberous sclerosis

Summary We report a 29-year-oId woman who had prominent cutaneous markers of tuberous sclerosis, with subependymal nodules and renal cysts on computerized tomographic scan, who also showed multiple angiokeratomas widely distributed on the buttocks and posterior thighs. Enzymatic studies ruled out Fabry's disease and other lysosomal storage disorders. This is the first reported association of widespread angiokeratomas and tuberous sclerosis.     

Dental caries in 2 families with tuberous sclerosis

Four cases of tuberous sclerosis in two families are presented. We studied the oral manifestations of the disease and we suggest that dental pits should be taken as clinical markers for diagnosis in oligosymptomatic cases. We found that feature in all patients affected by tuberous sclerosis.     

Numerous fibrous papules of the face unassociated with any genodermatosis

Numerous angiofibromas on the face are commonly associated with tuberous sclerosis or multiple endocrine neoplasia type 1. We present a healthy 66-year-old female with numerous facial angiofibromas, without evidence of tuberous sclerosis, multiple endocrine neoplasia type 1, or any of the less common syndromes associated with many angiofibromas on the face. To our knowledge, there have been no previously reported cases of patients with numerous facial angiofibromas who did not have an associated genodermatosis.     

CT and MR imaging of intracranial tuberous sclerosis.

CT and MR have permitted radiology to play a greater, but not definitive, role in detecting the pathologic components of tuberous sclerosis. SEN may be identified in only 80% of patients. Tubers are more ubiquitous and readily identified by MR in children and adults when the brain is myelinated. Since tubers are predominantly peripheral hypomyelinated lesions, the detection of small lesions may be delayed until an infant is over 16-18 months of age when the myelin will have extended to the junction between the cortical white and gray matter. SEGA typically evolve later during the first and second decades of life. Successful genetic counseling implies a need to detect tuberous sclerosis at a stage during infancy when imaging may fail to confirm the diagnosis, so tuberous sclerosis remains a clinical diagnosis.