The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome?

The cardio-facio-cutaneous (CFC) syndrome has several features in common with the Noonan syndrome, but is distinguished by the presence of hyperkeratotic skin lesions, abnormal hair, and a lack of familial cases. We describe a family who clearly satisfy the criteria for the CFC syndrome, and show other features which have been reported in the Noonan syndrome but not in the CFC syndrome, namely a haemorrhagic diathesis and ocular abnormalities. This supports the concept that the CFC syndrome is a manifestation of the Noonan syndrome.     

Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement

Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is a rare congenital neurocutaneous disease. It is characterized clinically by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye, ipsilateral porencephalic cysts with cortical atrophy, cranial asymmetry, marked developmental delay and mental retardation. This syndrome should be distinguished from other mosaic neurocutaneous phenotypes such as as Delleman syndrome, Schimmelpenning syndrome, Goltz syndrome, Goldenhar syndrome and Proteus syndrome. Here we report a case of Haberland syndrome with bilateral involvement which underscores the extreme heterogeneity of clinical presentation of this and related syndromes.     

CLOVE Syndrome with Nevus Unis Lateris: Report of a Case

Abstract: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently described syndrome similar to Proteus syndrome but lacking the progressive or distorting bony overgrowth of Proteus syndrome. We describe a neonate with features of CLOVE syndrome and nevus unius lateris.     

Fatal Sweet syndrome associated to chronic idiopathic systemic inflammatory response syndrome

Sweet syndrome is one of the cutaneous processes more frequently associated to systemic diseases. Its association to the systemic inflammatory response syndrome has rarely been described. We report a case of chronic and relapsing Sweet syndrome associated to a chronic and idiopathic systemic inflammatory response syndrome that lasted seven years and proved fatal to the patient. Among the rare cases of Sweet syndrome associated to a systemic inflammatory response syndrome that have been described there have not been any fatal cases as occurred with our patient.     

Brittle nails and dyspareunia as first clues to recurrences of malignant glucagonoma

Glucagonoma syndrome is a paraneoplastic syndrome in which the occurrence and resolution of the characteristic necrolytic migratory erythema lesions parallel the course of the underlying glucagonoma. Nail abnormalities and dyspareunia are rarely reported in this syndrome. We describe a case of glucagonoma syndrome in which recurrent brittle nails and dyspareunia gave the patient the first clues of the recurrence of glucagonoma. It is possible that the significance of onychoschizia and dyspareunia has been overlooked in glucagonoma syndrome because patients might not report these problems to their doctors. Our case illustrates the importance of examining the nail and genital mucosa in patients with glucagonoma syndrome and including this syndrome in the differential diagnosis of onychoschizia and dyspareunia.     

ADULT syndrome due to an R243W mutation in TP63

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare, autosomal dominant form of ectodermal dysplasia due to TP63 mutations. ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. ADULT syndrome is characterized by ectrodactyly, syndactyly, and excessive freckling, in addition to more typical ectodermal defects, including hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Unlike some of the other TP63-associated ectodermal dysplasias, ADULT syndrome lacks clefting and ankyloblepharon. Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome.     

Wells syndrome and its relationship to Churg–Strauss syndrome

Background Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg–Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship. Methods We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg–Strauss syndrome during the course of their disease. Results The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg–Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg–Strauss syndrome. Conclusion We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg–Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg–Strauss syndrome.     

Dyspareunia and Sjögren's syndrome

BACKGROUND: Dyspareunia is frequently associated with a psychiatric origin, particularly in patients with no obvious vulvovaginal or pelvic disease. The aim of this study was to assess the frequency of dry syndrome in patients with dyspareunia and to evaluate the main clinical and biological features and follow-up data for women with dyspareunia and dry syndrome. PATIENTS AND METHODS: Twenty-two patients presenting chronic idiopathic dyspareunia (without clear vulvovaginal dermatosis or infection) were included in this retrospective study. All patients underwent history-taking, gynecological examination, a Schirmer tear test, a sugar test, labial salivary gland biopsy assessment and immunological examination. A diagnosis of Sj?gren's syndrome was considered where histological examination of the salivary glands showed a lymphocyte infiltration corresponding to stage 3 or 4 in the Chisholm classification. Diagnosis of dry syndrome without Sj?gren's syndrome was made in patients with xerostomia and/or xerophthalmia without a specific histological picture of Sj?gren's syndrome or immunological abnormalities at salivary gland biopsy. RESULTS: Based on our criteria, 10 patients (45%) had dry syndrome, including 4 with Sj?gren's syndrome and 6 with dry syndrome without Sj?gren's syndrome. 9 of these 10 patients presented either xerostomia (7 cases) and/or xerophthalmia (7 cases). Vaginal dryness was reported by 3 of the 10 women with dry syndrome but also by 4 of 12 women without dry syndrome. Examination of the vulva showed no particular clinical features and treatment with an emollient was not effective in all cases. DISCUSSION: This study showed a high frequency of dry syndrome in patients with chronic "idiopathic" dyspareunia. The incidence of the condition was even greater in women with functional conditions evocative of dry syndrome. Women presenting dyspareunia with no clearly related clinical causes should thus be carefully assessed for dry syndrome.     

Acute febrile neutrophilic dermatosis (Sweet''s syndrome) and adenocarcinoma of the rectum

Sweet's syndrome is a distinctive dermatosis that usually occurs as an idiopathic disorder. About 10% of cases have occurred in patients with myeloproliferative disease. Seven cases have been described with Sweet's syndrome in conjunction with a solid malignancy. We report a patient with Sweet's syndrome in association with an adenocarcinoma of the rectum. We believe that this syndrome may reflect a clinical manifestation of underlying myeloproliferative or solid malignancy. Sweet's syndrome is a characteristic dermatosis of acute onset, consisting of pseudovesicular, tender nodules and plaques, fever, arthritis and a neutrophilic leukocytosis. The associaton of Sweet's syndrome with myeloproliferative diseases has been reported several times. Acute myeloid leukaemia may occur in up to 10% of patients with Sweet's syndrome.^1,2 Reports of associations of the syndrome with non-myeloproliferative malignancies are uncommon. We report herein a patient with Sweet's syndrome and an adenocarcinoma of the rectum.     

Proteus syndrome: report of the first Japanese case with special reference to differentiation from Klippel-Trenaunay-Weber syndrome.

This is the first report of a Japanese girl with Proteus syndrome. She presented with growth acceleration and precocious development of the left breast as well as macrodactyly, hemihypertrophy, a subcutaneous preaxillary mass, portwine stains, connective tissue nevi, and a depigmented macule. All these abnormalities were confined to the left side of her body. Although most of the manifestations fit those of Proteus syndrome, the presence of the portwine stains and hemihypertrophy also suggested Klippel-Trenaunay-Weber syndrome. The findings in our patient suggest that the most important characteristic distinguishing Proteus syndrome from Klippel-Trenaunay-Weber syndrome is the presence of functional abnormalities such as a growth spurt and precocious breast development. Proteus syndrome may be genetically different from the Klippel-Trenaunay-Weber syndrome.     

Kindler syndrome

Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.     

Gastrointestinal polyposis syndromes

Well recognized cutaneointestinal syndromes in which colonic polyps are a constant and defining feature include Gardner's syndrome (familial adenomatous polyposis), Peutz-Jeghers syndrome, and Cronkhite-Canada syndrome. Colonic polyps are also found with increased frequency in Cowden's disease, the Muir-Torre syndrome, and neurofibromatosis. The Ruvalcaba-Myhre-Smith syndrome is a newly defined entity in this category. The relationship between acrochordons and colonic polyps remains a controversial issue, awaiting additional studies.     

Unusual Cystic Scalp Lesions in Gorlin Syndrome: A Brief Report

Abstract: Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare, autosomal dominant syndrome that is known to have variable expressivity in multiple organ systems. We describe the case of a young male child with nevoid basal cell carcinoma syndrome and scalp lesions, including a branchial cleft cyst with respiratory epithelium and a rudimentary meningocele. These are both new, previously unreported findings, possibly associated with nevoid basal cell carcinoma syndrome.     

Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?

Summary Rapp-Hodgkin syndrome and AEC syndrome are two disorders in which ectodermal dysplasia and clefting are associated. Rapp-Hodgkin syndrome is an autosomal dominant condition characterized by cleft lip and palate, peculiar craniofacial features, and ectodermal dysplasia, consisting of abnormalities of teeth, hair, nails and sweating. AEC syndrome manifests the same defects plus ankyloblepharon and a higher frequency of scalp dermatitis. A child affected by ectodermal dysplasia associated with clefting, ankyloblepharon, severe scalp dermatitis, and the characteristic Rapp– Hodgkin fades is reported. The overlap between Rapp–Hodgkin syndrome and AEC syndrome is discussed. Critical review of both disorders suggests that AEC syndrome and Rapp–Hodgkin syndrome represent the same entity.     

Encephalocraniocutaneous lipomatosis: a new case report and review of the literature

Encephalocraniocutaneous lipomatosis is a rare neurocutaneous syndrome characterized by lipomatous hamartomas ranging in size from a few millimeters to several centimeters and affecting the head. Ocular anomalies and a variable degree of mental retardation with or without convulsions are usually observed. This disorder should be distinguished from other mosaic neurocutaneous phenotypes such as Proteus syndrome, oculocerebrocutaneous syndrome, and nevus sebaceous syndrome. We report the clinicopathologic findings of a 4-year-old Brazilian girl affected by this syndrome and review the literature. To our best knowledge, this is the first documented case of encephalocraniocutaneous lipomatosis occurring sporadically in South America.     

Diffuse lentiginosis in a patient with Werner's syndrome—a possible association with incomplete leopard syndrome

A classical case of Werner's syndrome is described. In addition to the numerous skin changes that are typically associated with Werner's syndrome, our patients also displayed diffuse lentiginosis, and several of the clinical features of leopard syndrome. Histopathological and ultrastructural findings from a hyperpigmented maculae displayed the typical features of a simple lentigo. A striking feature was the presence of melanosomes in Langerhans cells as has been reported in the leopard syndrome. A possible generalized mesodermal defect has been suggested in Werner's syndrome, while the basic defect in the leopard syndrome is thought to be of neuroectodermal origin with pleiotropic changes in the organs derived from the mesoderm. Our patient, with incomplete leopard syndrome and typical Werner's syndrome, may be an example of an association of genetic defects affecting both tissues of neuroectodermal and mesodermal origin.     

Ocular sequelae and sicca syndrome following Lyell's syndrome

The mucous lesions are customary in toxic epidermal necrolysis. The acute ocular lesions have led to definitive sequelae. 22 out of 32 patients surviving to a Lyell's syndrome lend themselves to an ophthalmological supervision. 13 of these 22 patients (59 p. 100) presented a sicca syndrome with a decrease of the lacrimal secretion (12 cases) and/or salivary secretion (8 cases). The sicca syndrome appeared sometimes from the beginning of the acute phase of the Lyell's syndrome or more often a few weeks later. This decrease of the lacrimal flux went along with objective corneal lesions among 11 patients, and 6 of them had a change of the visual function. A biopsy of the accessory salivary glands was performed on 7 of these patients having a reduction of the salivary flux. 5 of these 7 biopsies showed lymphocytic infiltrates giving in 2 cases a nodular aspect, grade III of Chisholm's classification, held to be pathognomonic of Sj?gren syndrome. The 13 patients having presented a sicca syndrome differed from the other 9 patients (without sicca syndrome) by a higher severity of their Lyell's syndrome and by a higher age. None of our patients with dry syndrome had antinuclear antibody detected by immunofluorescence on sections of rat's livers. Sicca syndromes with sometimes lymphocytic infiltrate similar to those of Sj?gren's syndrome were occasionally imputed to drug reactions. The occurrence of "Sj?gren like's syndrome" after a toxic epidermal necrolysis suggests the intervening of autoimmune phenomena in the pathogenesis of this toxic epidermal necrolysis.(ABSTRACT TRUNCATED AT 250 WORDS)     

Glucagonoma syndrome: a review and update on treatment

Glucagonoma syndrome is defined by the presence of an alpha‐cell secreting tumour of the pancreas, elevated levels of glucagon, and a characteristic rash called necrolytic migratory erythema (NME). NME is usually a specific and often initial finding of glucagonoma syndrome, but it may occur in other settings unassociated with an alpha‐cell pancreatic tumour (pseudoglucagonoma syndrome). Glucagonoma syndrome must be distinguished from pseudoglucagonoma syndrome. Prompt recognition of NME and subsequent workup for a glucagonoma can allow for an earlier diagnosis and enhance the chances of a favourable outcome. In particular, metastases occur late, so early recognition of glucagonoma syndrome before liver metastases can be life‐saving. Surgical resection is the definitive treatment for glucagonoma syndrome, although chemotherapeutic agents, somatostatin analogues and radionuclide therapy are also employed. Herein, we offer an approach to workup after identifying NME and an update on its current treatment modalities.     

Solitary glomeruloid haemangioma without POEMS syndrome

BACKGROUND: The term 'glomeruloid haemangioma' was coined by Chan et al. for a histologically distinctive cutaneous haemangioma, which they considered a specific cutaneous marker for POEMS syndrome. Glomeruloid haemangiomas appear to be specific to POEMS syndrome, because they have not been reported in patients without this syndrome. METHODS: We report on an 86-year-old man without POEMS syndrome and with a solitary red papule on the face. RESULTS: A cutaneous biopsy showed histological findings consistent with a glomeruloid haemangioma. Physical examination of the skin did not show any other cutaneous lesion and laboratory and radiological studies ruled out the presence of POEMS syndrome. CONCLUSIONS: Glomeruloid haemangiomas could exceptionally be present as solitary vascular tumours and out of the context of POEMS syndrome. To our knowledge, this is the first case reported of glomeruloid haemangioma without POEMS syndrome. Moreover, the presentation on the face is also highly unusual.     

Anti-Ku antibody-positive systemic sclerosis-polymyositis overlap syndrome in an adolescent

Systemic sclerosis-polymyositis overlap syndrome is rare in children. Anti-PM/Scl is the most common autoantibody associated with this syndrome. We present a case of systemic sclerosis-polymyositis overlap syndrome in a child with isolated anti-Ku antibodies, an uncommon antibody associated with this rare syndrome.