Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita is an uncommon vascular malformation composed of capillary and venous sized vessels. It presents with a distinct reticulated pattern that is reminiscent of physiologic cutis marmorata however skin lesions do not resolve with warming of the skin surface. It may have a localized or generalized pattern on the skin. Associated anomalies occur in individuals with cutis marmorata telangiectatica congenita the most commonly reported are limb asymmetry and the coexistence of other vascular birthmarks. Adams Oliver Syndrome and cutis marmorata telangiectatica congenital-macrocephaly syndrome are rare disorders that are associated with cutis marmorata telangiectatica congenita.     

Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease

Abstract:  We report a neonate with cutis marmorata telangiectatica congenita and clinical features of Adams–Oliver syndrome in association with severe pulmonary vascular disease. We provide an overview of cutis marmorata telangiectatica congenita, distinguishing it from cutis marmorata, a common and benign physiologic cutaneous disorder seen in neonates. We highlight the need for thorough medical evaluation in cutis marmorata telangiectatica congenita to exclude associated congenital anomalies.     

Cutis marmorata telangiectatica congenita: report of 22 cases

Twenty-two cases of cutis marmorata telangiectatica congenita were evaluated during an 8-year period. All but two patients were examined in the first year of life; 14 of the 22 (64%) were female infants. Four patients had focal cutaneous atrophy associated with the reticulated vascular pattern, and eight had ulcerations of involved skin. Six (27%) had additional anomalies. Of these, three patients had a nevus flammeus, and one had congenital generalized fibromatosis and hemiatrophy. Two of the infants had glaucoma; one also had a facial nevus flammeus and the other had cutis marmorata telangiectatica congenita of the face. A congenital pigmented nevus and a localized venous malformation constituted the remaining associated defects. This disease is an uncommon cutaneous vascular anomaly that is most often solitary but occasionally may be associated with other developmental defects.     

伴有脊柱侧弯的先天性毛细血管扩张性大理石样皮肤

报告1例罕见的皮损持续存在且伴有脊柱侧弯的先天性毛细血管扩张性大理石样皮肤。患者女,19岁。背部树枝状青紫色毛细血管扩张伴脊柱侧弯19年。皮肤科检查:背部见网状或树枝状青紫色毛细血管扩张,伴局部坏死破溃、结痂、色素脱失及萎缩凹陷。皮损组织病理:表皮轻度萎缩,棘层色素增加,表皮突向下延伸,真皮全层胶原致密、均质化,大量毛细血管扩张,血管内皮细胞增生,管周有少量淋巴细胞浸润。诊断为先天性毛细血管扩张性大理石样皮肤(cutis marmorata telangiectatica congenita, CMTC)。     

Cutis marmorata telangiectatica congenita: clinicopathologic characteristics and differential diagnosis

Cutis marmorata telangiectatica congenita is an uncommon cutaneous vascular disorder characterized by persistent cutis marmorata, telangiectases, and phlebectases. In addition to atrophic and/or ulcerated lesions, other vascular conditions may be observed. Cutis marmorata telangiectasia congenita usually occurs sporadically, typically is present at birth, and predominantly affects girls. Various associated congenital anomalies have been reported in approximately half of the patients with this condition.     

Macrocephaly-cutis marmorata telangiectatica congenita

BACKGROUND: Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly/mental retardation syndrome described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita and several other abnormalities. CASE REPORT: A six month-old boy was seen for hyperplasia of the right side of the body. Clinical examination disclosed overgrowth, macrocephaly, a generalized reticulated, blue-violet vascular network, partial bilateral syndactyly between the 2nd and 3rd toes, and several superficial capillary malformations. Psychomotor development was normal. Brain MRI showed enlargement of the right lateral ventricle and hemisphere in relation to the left side but without malformation. Radiological examination of the skeleton showed asymmetry of the limbs. DISCUSSION: The patient reported herein presented macrocephaly-cutis marmorata telangiectatica congenita syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly and asymmetry. We set out the major components of this polymalformative syndrome that are rarely reported in the dermatologic literature.     

Cutis marmorata telangiectatica congenita with soft-tissue herniations on the lower legs

Cutis marmorata telangiectatica congenita is a rare vascular anomaly, producing a flat or depressed reticular erythema of variable extent, giving rise to a marbled effect. There is a predilection for females, and there is a frequent association with other congenital anomalies, of which a large number and variety have been described. A female neonate is reported with cutis marmorata telangiectatica congenita and two associated soft-tissue lesions on the anterior lower legs, which developed several weeks after birth. We believe these lesions, which have not been previously described, to be soft-tissue herniations with surrounding subcutaneous tissue atrophy.     

Early cutis marmorata telangiectatica congenita masquerading as ulcerated retiform purpura: a diagnostic trap

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital cutaneous vascular anomaly with a reticular marbled erythematous pattern, which can result in isolated benign skin lesions or less commonly be associated with systemic anomalies. Occasionally, the characteristic pattern of CMTC lesions is masked on initial presentation, creating a diagnostic conundrum that can result in unnecessary workups to rule out vasculopathy. We present the case of a female newborn with a red-blue ulcerated skin lesion on the right leg and foot, which initially appeared as retiform purpura but evolved to exhibit the mottled pattern of CMTC by 5 days of age. Clinicians must be made aware of this potential diagnostic trap in early CMTC to avoid invasive skin biopsies and unnecessary laboratory testing in neonates.     

Cutis mormorata telangiectatica congenital successfully treated with intense pulsed light therapy: A case report

Cutis marmorata telangiectatica congenita is a rare disorder characterized by cutis marmorata, telangiectasia with or without recurrent ulcerations. It is a benign vascular anomaly with dilatation of capillaries and veins in the dermis. There is no satisfactory treatment for the ulcerative variety of cutis marmorata telangiectatica congenita. In this case, intense pulse light therapy was used with almost near total cure. Intense pulse light with its vascular filter of wavelength 550–1200 nm was used every fortnight till complete resolution of lesions.     

Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata)

A 1-month-old boy showed cutis marmorata telangiectatica congenita (CMTC) involving a block-like pattern on his left leg and thigh and on the left side of his trunk, along with bilateral greyish-blue hyperpigmentation involving the buttocks and thighs and being in part intermingled with CMTC. This association of CMTC with Mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis (PPV), namely PPV type V. More recently, the term phacomatosis cesiomarmorata (cesius = blue) has been proposed. We believe phacomatosis cesiomarmorata is another example of twin spotting or didymosis.     

CUTIS MARMORATA TELANGIECTATICA CONGENITA

The authors describe ten cases of cutis marmorata telangiectatica congenita (CMTC). All of these cases were sporadic. The incidence of associated anomalies was relatively low, and three patients had skin manifestations (cutaneous atrophy and nevus telangiectaticus). In two patients, the right leg was shorter and thinner. Another two showed neurologic symptoms without lasting neurologic damage. New associated anomalies, such as tendinitis stenosans and bowing of the lower legs, did not provide additional information regarding the cause of CMTC. The authors suggest that Happle's lethal gene hypothesis for Klippel-Trenaunay and Sturge-Weber syndromes also could be applied to CMTC.     

Cutis marmorata telangiectatica congenita and neonatal lupus

Cutis marmorata telangiectatica congenita is an uncommon congenital vascular anomaly that is characterized by persistent, reticulated, violaceous pigmentation. We describe a female infant with vascular lesions consistent with this entity who was born to a mother with previously diagnosed systemic lupus erythematosus. Antinuclear antibodies and anti-Ro/SSA antibodies were detected in both mother and infant, supporting a diagnosis of neonatal lupus. This presentation is consistent with the rarely reported association between neonatal lupus and cutis marmorata telangiectatica congenita that suggests the latter is part of the cutaneous spectrum of the former. A thorough maternal history and laboratory investigations should be considered for infants with cutis marmorata telangiectatica congenita and their mothers in order to rule out the presence of an underlying autoimmune disease.     

Adams–Oliver Syndrome: A Case Report

We report the case of an infant with Adams–Oliver syndrome, a rare disorder characterized by aplasia cutis congenita, defects of the limbs and extremities, and cutis marmorata telangiectatica. Other associated anomalies have been reported, such as facial dysmorphism, heart defects, and disorders of the central nervous system.     

Cutis Marmorata Telangiectatica Congenita: A Case Report

Cutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous vascular disorder that was first described in 1922 by Van Lohuizen (1). The clinical presentation is one of persistent cutis marmorata, phlebectasia, telangiectasia, and areas of ulcerations. The disorder shows slow clinical improvement over time. Previously, CMTC has also been described as congenital generalized phlebectasia (2-7), congenital phlebectasia (8), nevus vascularis reticularis (9), congenital livedo reticularis (10), and livedo telangiectatica (11). The following is a case report.     

Painful cutis marmorata teleangiectatica congenita]

A 39-year-old woman with cutis marmorata telangiectatica congenita (CMTC) on the back presented with a 5-year history of pain in the involved area which initially occurred only on touch and cold exposure but was ultimately virtually constant. Histological examination of a skin biopsy specimen revealed an increased number of nerve fibres. The phlebectatic subcutaneous veins were demonstrable by NIR (near infrared) venoscopy.     

CUTIS MARMORATA TELANGIECTATICA CONGENITA WITH SKIN ULCERATIONS IN A NEW BORN

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital disorder with persistent cutis marmorata, telengiectasia, and phlebectesia, which may be associated with cutaneaus atrophy and ulceration of the involved skin. We herewith report a full-term newborn female baby with CMTC at birth with ulceration over the extensor aspects of both the knee joints and right elbow joint. CMTC is a benign vascular anomaly representing dilatation of capillaries and veins of dermis and is apparent at birth. The baby had a reticulated bluish purple skin changes all over the body including the face and limb. Although it resembled physiological cutis marmorata, it was strikingly pronounced and definitely was unvarying and permanent. A variety of vascular malformation has been described along with this disorder. Etiology is not very clear and may be multifactorial, teratogens and genes are also been suggested. Prognoses in uncomplicated cases are good.     

Cutis marmorata telangiectatica congenita: crossed limb dimelia]

We report a case of localized cutis marmorata telangiectatica congenita involving the right upper limb and the left lower limb. This is a rare distribution, with only one case in the literature. The patient, a 22-month old boy, showed no other abnormality.     

Acantholytic dyskeratotic epidermal nevus: a rare histopathologic feature

BACKGROUND: Epidermal nevus is a congenital malformation of the epidermis consisting of verrucoid scaly plaques on the skin, often in a linear fashion. Different histologic features have been seen and, at times, acantholytic dyskeratosis has been observed. We report a new case of acantholytic dyskeratotic epidermal nevus. CASE REPORT: A 3-year-old girl presented, since birth, asymptomatic keratotic scaly lesions on the left hemithorax and left arm that followed Blaschko's lines. HISTOLOGY: Biopsies revealed acanthosis, papillomatosis, hyperkeratosis and focal areas of suprabasal clefting with acantholysis, as well as individual dyskeratotic cells (corps ronds et grains) in the upper layers of the epidermis. In the literature, this histologic feature has been reported twice. Generalized or localized Darier's disease are well-established clinical entities with characteristic histologic features of acantholytic dyskeratosis. Because of the linear clinical appearance and the onset at birth or early childhood, the lesions should be regarded as epidermal nevi and not linear Darier's disease. CONCLUSION: We report here an additional case of dyskeratotic epidermal nevus, which is a rare histopathologic feature.     

Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features

Macrocephaly-cutis marmorata telangiectatica congenita is a recently recognized syndrome described mainly in the genetics literature. However, children with macrocephaly-cutis marmorata telangiectatica congenita are likely to present first to a dermatologist, with generalized cutis marmorata telangiectatica congenita as the main feature. These children are at risk of neurologic abnormalities and life-threatening complications. Therefore it is important for dermatologists to recognize this syndrome to monitor these children for potential complications. We report the case of a 2-year-old boy with macrocephaly-cutis marmorata telangiectatica congenita in association with dysmorphic facies, seizures, and facial and limb asymmetry, and we review the salient features of this syndrome.