White epidermal nevus as an early sign of tuberous sclerosis complex—A case series

Tuberous sclerosis complex (TSC) is a rare genetic disease with neurocutaneous manifestations, often presenting initially to the dermatology clinic. We report a cohort of neonates who presented with a novel finding of white epidermal nevus and were eventually diagnosed with TSC. White epidermal nevus may be yet another dermatological finding that may aid in the early diagnosis of TSC.     

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

In patients with tuberous sclerosis, we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary non-segmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. So far, the second category has been called ‘type 2 segmental mosaicism’, but here we propose the short and unambiguous term ‘superimposed mosaicism’. In order to render physicians familiar with the manifold manifestations of this category as noted in tuberous sclerosis, we review the following clinical designations under which cases suggesting superimposed mosaicism have been published: forehead plaque; shagreen patch; fibrous cephalic plaque; fibromatous lesion of the scalp; folliculocystic and collagen hamartoma; segmental hypomelanosis; congenital segmental lymphedema; and segmental ‘diffuse’ lipomatosis. Molecular corroboration of this genetic concept has been provided in a case of forehead plaque and in a child with shagreen patch. – Extracutaneous manifestations suggesting superimposed mosaicism include columnar tuberous brain defects; ‘radial migration lines’ or ‘cerebral white matter migration lines’ as noted by brain imaging; linear hamartomatous lesions of the tongue; fibrous dysplasia of bones including macrodactyly; and unilateral overgrowth of an arm or leg. – Remarkably, superimposed mosaicism appears to occur in tuberous sclerosis far more frequently than simple segmental mosaicism.     

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.     

Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex

Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant condition caused by mutations in the gene which codes for folliculin (FLCN). It is characterised clinically by fibrofolliculomas, trichodiscomas, pulmonary cysts, spontaneous pneumothoraces and renal cancers. This case illustrates a patient with BHDS and a renal angiomyolipoma. Angiomyolipomas are not described as a feature of BHDS, but rather they can occur sporadically or in tuberous sclerosis complex (TSC). Recent studies suggest that clinical similarities between BHDS and TSC may be explained by FLCN and TSC proteins functioning on a common pathway, mammalian target of rapamycin. This case adds to the literature of cases with clinical similarities.     

Anhidrotic ectodermal dysplasia—A case series in a medical center in southern Taiwan

BackgroundAnhidrotic ectodermal dysplasia (EDA) is a rare genodermatosis that causes developmental defects in ectoderm-derived structures. The clinical triad consists of hypodontia, hypotrichosis, and anhidrosis with other additional symptoms. The aim of this study is to summarize the clinical manifestations, family history, histopathological findings of the skin, and gene mutations in EDA patients who presented at a medical center in order to make the disease better known among medical personnel.MethodsA retrospective review of the medical charts and photographs of patients diagnosed with EDA at the Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University from June 1988 through May 2011 was performed. Information about the clinical manifestations, family history, histopathological findings of the skin, and genetic mutations was collected, and the initial presenting symptoms that lead to seeking medical services were determined.ResultsOne female patient and seven male patients were identified. The triad was present in all patients, in addition to other variable features. Five patients had a positive family history, while three of them were from the same family. Histopathological findings noted in the skin biopsies included the absence of sweat glands on the palmar skin. Genetic mutations were detected in six of seven patients in this study, but there was no genotype-phenotype correlation. The initial presentations most commonly noted were the absence of sweating with episodic hyperthermia since birth. Eczema since infancy was the main reason why these patients visited the dermatology department following the diagnosis of EDA.ConclusionsEDA is a rare genodermatosis, and it is invariably characterized by its clinical triad. Family history and genetic analysis help in the diagnosis. The dermatologist, pediatrician, and dentist are usually the medical personnel that these patients first visit, and therefore these individuals should be acquainted with this disease in order to provide appropriate care.     

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.     

Kaposi’s sarcoma in persons living with HIV/AIDS: a case series in a tertiary referral hospital

Background:Kaposi’s sarcoma (KS) is a rare neoplasm with indolent progression. Since 1981, the Kaposi’s sarcoma epidemic has increased as co-infection with HIV.Objectives:The study aimed to identify the clinical and demographic characteristics and therapeutic approaches in HIV/AIDS patients in a regional referral hospital.Methods:We analyzed the medical records of 51 patients with histopathological diagnosis of Kaposi’s sarcoma hospitalized at Hospital Universitário João de Barros Barreto (HUJBB) from 2004 to 2015.Results:The study sample consisted of individuals 15 to 44 years of age (80.4%), male (80.4%), single (86.3%), and residing in Greater Metropolitan Belém, Pará State, Brazil. The primary skin lesions identified at diagnosis were violaceous macules (45%) and violaceous papules (25%). Visceral involvement was seen in 62.7%, mainly affecting the stomach (75%). The most frequent treatment regimen was 2 NRTI + NNRTI, and 60.8% were referred to chemotherapy.Study limitations:We assumed that more patients had been admitted to hospital without histopathological confirmation or with pathology reports from other services, so that the current study probably underestimated the number of KS cases.Conclusion:Although the cutaneous manifestations in most of these patients were non-exuberant skin lesions like macules and papules, many already showed visceral involvement. Meticulous screening of these patients is thus mandatory, even if the skin lesions are subtle and localized.