Marshall's syndrome

Marshall´s syndrome is a form of acquired cutis laxa without systemic involvement, which is preceded by an inflammatory dermatitis with a neutrophilic component. We report a case of a 6-year-old boy with clinical and histopathological features of this syndrome. The etiology remains unknown and there is no definitive treatment.     

Increased fibroblast elastase activity in acquired cutis laxa.

BACKGROUND: Acquired cutis laxa is a rare disease characterized by sagging skin, premature wrinkling and reduced skin elasticity. OBSERVATION: We report a 21-year-old woman, who presented with acquired cutis laxa on the face and the ear lobes. Urticarial papules had preceded for 6 years. There was no systemic involvement. Skin specimens were obtained from lax skin and urticarial papules, and from healthy controls. Histology showed only few perivascular lymphocytes in lax ear skin and a dense inflammatory infiltrate in urticarial skin. In both biopsies elastic fibres were decreased as demonstrated by computerized morphometric analyses. Elastase activities of fibroblasts in culture were evaluated. There was a 2- to 3-fold increase in elastase activity in urticarial skin fibroblasts, contrasting with a normal elastase activity in lax ear skin. CONCLUSION: Our findings suggest that the inflammatory cells could play a significant role in the destruction of elastic fibres.     

Acquired Cutis Laxa Type II (Marshall Syndrome) in an 18-Month-Old Child: A Case Report

Abstract:  Cutis laxa is a rare disorder resulting from degradation and clumping of elastic fibers in dermis. Type II acquired cutis laxa, shows only cutaneous changes without any systemic involvement. We describe an infant with acquired cutis laxa type II following a generalized inflammatory dermatitis.     

Acquired cutis laxa and myeloma: large vacuolated cells in the dermis

INTRODUCTION: Cutis laxa is a rare disorder characterized by loss of elastic tissue. Several organs are often involved such as the skin, lungs, heart, digestive system or genitourinary tract. It may be inherited or acquired, generalized or localized. Its pathogenesis is unclear. Association of acquired cutis laxa with myeloma or plasma cell dyscrasia is very rare. We report a case of acquired cutis laxa associated with a myeloma. CASE REPORT: A 59 year-old woman was admitted for skin hyperlaxity present for a number of years. Light microscopic examination of a skin sample revealed fragmented elastic fibers. Electron microscopic examination of the elastic network demonstrated numerous large vacuolated cells with the appearance of macrophages around abnormal elastic and collagen fibers of the reticular dermis. In addition, a stage-1 IgG lambda myeloma was detected. The patient was treated by thalidomide for one year. After this treatment, electron microscopy examination did not reveal any large vacuolated cells in the dermis, and elastic and collagen fibers were not modified and skin laxity seemed to be stabilized. DISCUSSION: Acquired cutis laxa may be associated with many systemic diseases or can appear after inflammatory skin diseases. Seven cases of generalized cutis laxa associated with myeloma and four cases associated with plasma cell dyscrasia have been reported in the literature. In our case, as in 2 previously described cases, large vacuolated cells resembling macrophages were seen in the dermis. They were thought to play a role in cutis laxa.     

Acquired localized cutis laxa of the face: a rare presentation

We report a rare case of acquired localized cutis laxa in a teenage boy, without any preceding skin lesions. The area affected was the midface, extending to the chin, and involving the ears, leading to a prematurely aged appearance. Only five such cases have been previously published in the literature.     

Acquired cutis laxa secondary to Sweet syndrome in a child (Marshall syndrome): A rare case report

Sweet syndrome is rare in the pediatric population and usually responds well to treatment, resolving without sequelae. Marshall syndrome is a rare pediatric skin disease characterized by loss of elastic tissue (cutis laxa) secondary to acquired, localized neutrophilic dermatitis without any internal organ involvement. Only few cases of Marshall syndrome (acquired cutis laxa type II) have been reported. Systemic steroids and dapsone show excellent results in Sweet syndrome. Although there is no satisfactory treatment for cutis laxa, dapsone can be used in the acute phase for control of swelling.     

Localized acquired cutis laxa associated with trachyonychia

Acquired cutis laxa is a rare disease of unknown cause, which affects elastin metabolism. Clinically, it is characterized by redundant skin and hyperelasticity, while the histological study shows a reduction in or absence of elastic fibers in the dermis. We present a case of localized acquired cutis laxa associated with trachyonychia.     

Acral localized acquired cutis laxa as presenting sign of underlying systemic amyloidosis

Acral localized acquired cutis laxa (ALACL) is a rare variant of acquired cutis laxa, and the clinical appearance is characterized by loose, redundant and wrinkled skin of the distal extremities. By definition, histopathology of affected tissue reveals sparse or fragmented elastic fibers. However, this can be difficult to assess on routine staining, and sometimes requires electron microscopy. The condition has been associated with plasma cell dyscrasias or recurrent inflammatory states. We present a case of a 65-year-old man who presented with enlarged and doughy finger pads. Skin biopsy showed diffuse dermal amyloid deposition displacing dermal stroma and reduction of elastic fibers, although these changes were subtle on routine hematoxylin and eosin staining. Mass spectrometry of laser capture microdissected tissue showed AL kappa-type amyloid and further workup revealed a diagnosis of primary systemic AL-kappa amyloidosis requiring bone marrow transplantation. This case represents an unusual presentation of acquired cutis laxa and highlights the need for a high index of suspicion when reviewing histopathology of this entity. In addition, the case highlights the importance of investigation into possible systemic associations, such as plasma cell dyscrasias.     

Cutis laxa of the autosomal recessive type in a consanguineous family

Cutis laxa comprises a group of uncommon disorders of elastin fibers first described by Graf in the early 19th century. The main characteristic is a redundant, loose skin with deep wrinkling or sagging combined with a variable systemic involvement. Histopathologic examination presents various abnormalities of the elastin fibers. We distinguish congenital as well as acquired forms of generalized or localized cutis laxa. The mode of inheritance shows great heterogeneity: autosomal dominant, autosomal recessive and X-linked recessive inheritance have all been described. We present a severe case of autosomal recessive type 1 cutis laxa in a female patient, born in a large, consanguineous Turkish family, where three other family members had already died of the disease. A missense mutation of fibulin-5 was identified in this patient.     

Cutis laxa: a review

Cutis laxa is a rare disorder of elastic tissue resulting in loose, redundant, hypoelastic skin. Both acquired and inherited forms exist, some of which have significant systemic manifestations. Here, we review the various forms of cutis laxa, with focus on the inherited forms. Recent molecular studies have provided many new insights into the causes of cutis laxa and revealed greater genetic heterogeneity than previously appreciated.     

Bilateral Congenital Entropion with Cutis Laxa

Cutis laxa is a rare connective tissue disorder characterized by redundant and pendulous skin due to a defect in the elastic fiber network. Two cases of entropion associated with cutis laxa have been reported, although entropion was due to elongation of the anterior lamella or horizontal lid laxity. Thorough systemic and ophthalmic evaluations were performed, as well as chart review for the perinatal period. Surgical correction of entropion through posterior tarsotomy was done. An infant boy with dysmorphic features and furrowing of the skin of the entire body without hyperelasticity, which is typical for cutis laxa, presented with bilateral congenital entropion. We report here for the first time a different etiology of congenital entropion with cutis laxa: the eyelashes were abnormally directed due to the unusual location of their roots, which were embedded within the tarsus. Moreover, this is the only case of cutis laxa with congenital entropion involving both upper and lower eyelids. Congenital entropion can be associated with cutis laxa. Although elongation of the anterior lamella and horizontal lid laxity predispose to such an entropion, abnormal location of the roots of the eyelashes might be encountered and marginal eyelid rotation surgery is indicated.     

Immunoglobulin A (IgA) deposits in lesional skin of a patient with blepharochalasis

Summary We describe a 21-year-old male patient with blepharochalasis, a form of localized acquired cutis laxa. He had a 13-year history of recurrent swelling attacks of the eyelids of unknown origin leading to periocular localized cutis laxa. Histology of lesional skin confirmed almost complete loss of elastic fibres in the reticular and papillary dermis. Immunofluorescence and immunoelectron microscopy studies showed abundant immunoglobulin A (IgA) deposits around the remaining elastic fibres. Control skin of the forearm was negative. These findings support the hypothesis that immunopathogenetic mechanisms may contribute to the elastolytic process of blepharochalasis.     

Localized scleroderma: clinical spectrum and therapeutic update

Scleroderma is a rare connective tissue disease that is manifested by cutaneous sclerosis and variable systemic involvement. Two categories of scleroderma are known: systemic sclerosis, characterized by cutaneous sclerosis and visceral involvement, and localized scleroderma or morphea which classically presents benign and self-limited evolution and is confined to the skin and/or underlying tissues. Localized scleroderma is a rare disease of unknown etiology. Recent studies show that the localized form may affect internal organs and have variable morbidity. Treatment should be started very early, before complications occur due to the high morbidity of localized scleroderma. In this review, we report the most important aspects and particularities in the treatment of patients diagnosed with localized scleroderma.     

获得性局限性皮肤松弛症一例

患者,女，24岁。面颈部皮肤逐渐松弛2年。皮肤科查体：面颈部、双上眼睑皮肤松弛下垂，呈早老外观。疲劳试验（-）。皮损组织病理学检查示真皮层弹性纤维减少，形态异常，呈扭曲状。诊断：获得性局限性皮肤松弛症。     

Generalized Cutis Laxa Associated with Heavy Chain Deposition Disease

BACKGROUND: Cutis laxa is a heterogeneous group of inherited and acquired disorders characterized clinically by loose skin and histologically by altered elastic tissue. Heavy chain deposition disease is a very rare monoclonal immunoglobulin disorder, distinct from multiple myeloma, in which there is production and deposition of defective immunoglobulin heavy chains without light chain deposition. OBJECTIVE: We describe a case of acquired cutis laxa associated with heavy chain deposition disease. RESULTS: A 50-year-old male presented with acute renal failure, IgG4 heavy chain deposition in the kidneys, and no evidence of multiple myeloma. Four years later, he developed generalized acquired cutis laxa, emphysema, and a peripheral polyneuropathy. On pathology, there was destruction of elastic fibers within the dermis. CONCLUSION: This case describes a previously unreported association between acquired cutis laxa and heavy chain deposition disease.     

Acquired cutis laxa in a 55-year-old female with multiple myeloma and serologic evidence of systemic lupus erythematosus

Cutis laxa (CL) is a rare connective tissue disorder characterized by loosely hanging skin folds. Histopathology reveals degenerative changes in the dermal elastic fibers, although loss of elastin can also occur in alveolar walls, blood vessels, and other organs. The coexistence of autoimmune diseases and monoclonal gammopathies is rare but well documented in the literature. Here we report an unusual case of cutis laxa (CL) preceding the development of serologic evidence of systemic lupus erythematosus (SLE) and a diagnosis of multiple myeloma (MM) by seven and eleven years respectively.     

Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome

We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth syndromes.     

Eosinophilic Pustular Folliculitis in Infancy: Report of Two New Cases

Eosinophilic pustular folliculitis (EPF) is a cutaneous inflammatory follicular disorder of unknown etiology. The diagnosis is made on the basis of clinical and histopathologic features. We describe two patients who had recurrent episodes of pruritic follicular papular and pustular lesions on the face, extremities, and trunk. The eruptions lasted for 1 month with intermittent remissions. Laboratory tests disclosed no infectious or parasitic etiology in patient 2. In patient 1 we isolated methicillin-resistant Staphylococcus aureus in a blood culture. He had sepsis with lung and liver involvement. EPF is a self-limited dermatosis. On occasion, skin lesions may become superinfected, resulting in localized pyoderma or rarely systemic infection (sepsis). Histologically both of our patients showed a moderate mixed inflammatory infiltrate with numerous eosinophils centered around hair follicles. Their lesions responded well to topical corticosteroids.     

Cutis laxa in hereditary gelsolin amyloidosis

BACKGROUND: Hereditary gelsolin amyloidosis (AGel amyloidosis) is an age-associated systemic disease with global distribution, caused by a G654A or G654T gelsolin gene mutation. Cutis laxa is a principal clinical manifestation of this disease. However, only few data on the dermatological involvement are available, and the pathogenesis of this amyloidosis-associated form of cutis laxa has remained unknown. OBJECTIVES: To elucidate the pathomechanism of this less well-known genodermatosis. METHODS: We performed systematic clinical, histological, immunohistochemical and ultrastructural skin biopsy studies in 12 patients with a G654A gelsolin gene mutation. For comparison, skin specimens from 10 control subjects were analysed. RESULTS: All patients had clinically characteristic cutis laxa, and frequently other signs of symptomatic skin disease such as increased fragility and risk for intracutaneous bleeding. All patients showed cutaneous deposition of gelsolin amyloid (AGel), mainly attached to basement membranes or basal laminae of various cutaneous structures, dermal nerves and blood vessel walls, and elastic fibres, particularly in the lower reticular dermis. AGel often encircled the elastic fibres, and colocalized with amyloid P component (AP), an elastic fibre microfibrillar sheath-associated protein. Fragmentation and loss of elastic fibres, epidermal atrophy, and reduction of dermal appendages were also common. Antibodies to wild-type gelsolin bound to S-100-positive epidermal dendritic cells, a previously unrecognized immunoreaction. Patients had fewer gelsolin-positive dendritic cells than controls. CONCLUSIONS: Widespread skin involvement with AGel deposition and elastic fibre involvement are essential pathological features in AGel amyloidosis, and contribute to the characteristic cutis laxa, dramatic in old age. Codistribution of AGel and AP, with demonstrated specific binding affinity for amyloid fibrils, suggests that elastic fibre-associated AP acts as a matrix for cutaneous amyloid deposition in AGel amyloidosis.     

Acquired Cutis Laxa: Case Report and Review of Disorders of Elastolysis

A 10-year-old boy developed cutis laxa while receiving isoniazid therapy; no systemic manifestations occurred. There are several well-documented cases of acquired cutis laxa. We propose a classification of the elastolysis syndromes, including inherited, neonatal, and acquired forms of cutis laxa.