Cutis marmorata telangiectatica congenita: clinical findings in 85 patients

Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, sporadic, congenital cutaneous condition presenting with persistent cutis marmorata, telangiectasia, phlebectasia and possible ulceration of the involved skin, skin atrophy, and undergrowth of the involved extremity. To further the current understanding of this disorder, we analyzed the clinical features of a large series of patients with CMTC. The files of 85 patients with CMTC who were examined in our center over the last 20 years were reviewed. The data recorded included patient sex, age at onset, nature and distribution of the lesions, associated abnormalities, and course of disease. CMTC was characterized by early recognition of the lesions (94% at birth) and equal sex distribution. The lesion was unilateral in 65% of patients and most commonly involved the limbs (69%). Additional capillary lesions, noted in 20% of patients, may well have been an extension of the CMTC itself. Associated anomalies were found in 18.8% of patients. Almost half of the patients showed a definite improvement in the reticular vascular pattern on follow-up. No familial cases of CMTC were noted. CMTC is more prevalent than previously recognized, affects both sexes equally, and has a mostly localized distribution; additional vascular lesions are associated with the disorder, but other anomalies occur less often. Prognosis is generally good.     

Cutis marmorata telangiectatica congenita: report of two persistent cases

Cutis marmorata telangiectatica congenita (CMTC) is defined as a localized or generalized reticulated, blue-violet vascular network in skin that is present at birth. The evolution is characterized by rapid improvement within 2 years. Rarely the lesions do not improve very much with age. Few reports include long-term follow-up of CMTC. We report two patients with persistent CMTC, including one with nervous breakdown and failure of laser treatment. The cause and incidence of persistent CMTC is unknown. Parents can be counseled that over time the lesions of CMTC may or not improve. There seems to be no predictive clinical sign. CMTC is usually a benign condition and therapy is rarely discussed. Treatment of persistent CMTC seems difficult and the effectiveness of laser therapy needs to be evaluated.     

Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria

Background.  Cutis marmorata telangiectatica congenita (CMTC) is a congenital vascular anomaly of unknown aetiology. About 300 cases have been reported in the literature. The rate of associated anomalies varies between 20% and 70%.
Methods.  We report a series of 27 children with CMTC, 18 of whom were followed-up prospectively for a median of 22 months (range 2 months–5.3 years).
Results.  Both genders were equally affected (13 male/14 female). The legs were involved in 20 cases (74%), the arms in 10 (37%), the face in 4 (15%) and the trunk in 18 (67%). There were 20 (74%) patients who presented with involvement of both trunk and limbs, a further 20 patients had lesions affecting the limb on only one side of the body, and 7 children (26%) had bilateral lesions; 1 child had generalized CMTC lesions. The involved areas covered a mean of 18% of body surface area (range 3–90). Associated anomalies were found in 15 patients (56%), with some exhibiting more than one. There was body asymmetry (hypertropy or hypotrophy of the affected limb) in nine patients (33%), seven patients had a variety of other malformations (congenital glaucoma, syndactyly, lipoma, macrocephaly, renal hypoplasia, Kartagener's syndrome), and other vascular lesions were present in four patients (15%). There was no correlation between the extent of skin lesions and likelihood of associated anomalies. On follow-up, fading of skin lesions was noted in 67% of our patients.
Conclusion.  Body asymmetry is the most common anomaly associated with CMTC; other associations might be pure chance. In order to separate CMTC from other vascular malformations, notably Klippel–Trénaunay syndrome, we suggest diagnostic criteria for their differentiation.     

Cutis marmorata telangiectatica congenita and chronic autoimmune urticaria in a young man

A 20-year-old man with mental impairment, was referred to us for evaluation of recurring idiopathic urticaria episodes, characterized by a diffuse spreading of wheals and severe itching lacking response to traditional antihistamines. Upon physical examination, he showed a persistent, generalized, reticular, red-bluish vascular skin pattern in association with diffuse arborizing telangiectasias. Such lesions were present from an early age. Laboratory and instrumental tests, performed in order to exclude any condition associated with livedo did not evidence pathological results. He was found to be positive for antinuclear autoantibodies (ANA; 1:640). Histopathologically, numerous dilated capillary vessels associated with sparse extravasated erythrocytes were observed in the upper dermis. We performed an autologous serum skin test (ASST), which resulted in a positive, suggesting an autoimmune basis of the condition. On the basis of clinical and histopathological findings, and in the absence of other clinical and laboratory data suggesting other neoplastic, immunological or systemic diseases, the diagnosis of cutis marmorata telangiectatica congenita (CMTC) associated with chronic autoimmune urticaria (CAIU) was made. CMTC is a rare congenital vascular disorder, consisting in an anomalous, persistent, red-bluish marbling of the skin, that can be associated with a wide spectrum of cutaneous and extracutaneous anomalies. In our case, neither physical examination nor instrumental investigation demonstrated any of these anomalies, with the exception of cognitive impairment. We report this case because of the rarity of a diagnosis of CMTC in an adult patient, because this condition has almost always previously been diagnosed in infancy, or it comes to observation because of the presence of associated disorders, as in our case for chronic urticaria.     

Cutis marmorata telangiectatica congenita. 4 new cases and review of the literature

Cutis marmorata telangiectatica congenita (CMTC) is characterized by a persistent vascular mottling of the skin, usually on the limbs. Four cases (2 males and 2 females) followed up for varying lengths of time are reported. In the first patient, whose vascular lesions were mild, careful re-examination after 10 years revealed some scars. In the second patient the lesions were located on the right side of the body, notably on the leg; 6 years later atrophic scars and a brownish plaque were visible on that leg. In the third patient the lesions occupied almost the entire body, although one side was more affected than the other and hypotrophic; the child's face was asymmetrical because of hypoplasia of the jaw and curvature of the nose; after 1 year the patient's general condition was satisfactory and the skin lesions were less evident but still present. In the fourth patient hypoplasia of a lumbar vertebra was discovered; the skin lesions were similar to those observed in the third patient. Examination of the deep vessels, performed whenever possible, did not show any abnormality, but the possibility of future vascular defects, such as varicosities, must be considered. While some authors emphasize the functional character of the disease, in our opinion the high frequency of multiple associated congenital abnormalities makes CMTC not only a vascular disorder but also a syndrome including other neuroectodermal and mesodermal defects. Therefore, any patient presenting with the cutaneous changes typical of CMTC should be examined with this in mind.     

Cutis marmorata telangiectatica congenita—a report of two cases occurring in male children

We report on two cases of male children with cutaneous changes consistent with the diagnosis of cutis marmorata telangiectatica congenita (CMTC) present from birth. One case was associated with an unexplained hepatosplenomegaly, which resolved spontaneously and there has been some improvement in the appearance of the skin. This case has severe late-onset atopic eczema. In the second case there is a reduced circumference of an affected arm compared with the unaffected side. This child also had eczema of a seborrhoeic pattern. CMTC is a rare disorder,¹ more common in females, which may he associated with congenital abnormalities in up to 50% of cases.² The typical cutaneous changes are usually present at birth but they have been reported to appear within the first 2 years of life.² When the changes occur after birth the condition must be distinguished from‘genuine diffuse phlebectasia,^3,4 a progressive disorder that usually starts in late childhood. Most cases of CMTC show a persistent pattern of cutis marmorata with a tendency to improve in some cases, although ulceratiun is occasionally a problem.² There may be associated telangiectasia and phlebectasia and in some cases there is marked atrophy of the subcutaneous tissue overlying the livedo.² The area of involvement is typically patchy often with a tendency to mid-line delineation (Fig. 2) and the limbs are frequently involved but there may be generalized skin changes. Although some familial cases have been reported^2,5 a hereditary transmission remains unproven.     

What is the biological basis of pattern formation of skin lesions?

Pattern recognition is at the heart of clinical dermatology and dermatopathology. Yet, while every practitioner of the art of dermatological diagnosis recognizes the supreme value of diagnostic cues provided by defined patterns of 'efflorescences', few contemplate on the biological basis of pattern formation in and of skin lesions. Vice versa, developmental and theoretical biologists, who would be best prepared to study skin lesion patterns, are lamentably slow to discover this field as a uniquely instructive testing ground for probing theoretical concepts on pattern generation in the human system. As a result, we have at best scraped the surface of understanding the biological basis of pattern formation of skin lesions, and widely open questions dominate over definitive answer. As a symmetry-breaking force, pattern formation represents one of the most fundamental principles that nature enlists for system organization. Thus, the peculiar and often characteristic arrangements that skin lesions display provide a unique opportunity to reflect upon--and to experimentally dissect--the powerful organizing principles at the crossroads of developmental, skin and theoretical biology, genetics, and clinical dermatology that underlie these--increasingly less enigmatic--phenomena. The current 'Controversies' feature offers a range of different perspectives on how pattern formation of skin lesions can be approached. With this, we hope to encourage more systematic interdisciplinary research efforts geared at unraveling the many unsolved, yet utterly fascinating mysteries of dermatological pattern formation. In short: never a dull pattern!     

Cutis marmorata teleangiectatica congenita with segmental distribution

Cutis marmorata teleangiectatica congenita (CMTC) is a very rare vascular malformation closely related to port wine stains. It is present at birth, asymmetrical distribution and limb involvement are common. We report here on a 6–month-old female patient exhibiting the typical clinical appearance of CMTC in a segmental pattern. To date 10 such cases have been reported. CMTC must be distinguished from other vascular malformations with asymmetrical distribution and – in case of a segmental pattern – particularly from unilateral dermatomal superficial teleangiectasia. Because of the tendency of such naevi to spontaneous improvement and localization of vascular dilatations in the dermis and subcutis no treatment was initiated at this point in lime.     

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

Three of our own and 38 previously reported cases of cutis marmorata telangiectatica congenita (CMTC) are reviewed. Light and electronmicroscopic studies revealed atypical capillaries, venules, and veins in different cutaneous layers. Clinically, the lesions are manifested as telangiectasis, capillary hemangioma , cutis marmorata, venous hemangioma and varicose veins, depending on the type of vessels involved and the layer of skin affected. Secondary thrombosis with subsequent localized atrophy and ulceration occurs in a substantial number of cases. In at least 50% of cases there are associated findings. Hypoplasia or hyperplasia of „affected” or of „unaffected” organs is the most common association. Overwhelming sporadic occurrence, female reponderance, occasional minor manifestations in close relatives and considerable clinical variability suggest a multi-factorial etiology of CMTC.     

Enhancement of lesion classification using divergence, curl and curvature of skin pattern

BACKGROUND/PURPOSE: The observation that skin pattern tends to be disrupted by malignant but not by benign skin lesions suggests that measurements of skin pattern disruption on simply captured white light optical clinical (WLC) skin images could be a useful contribution to a diagnostic feature set. Previous work which generated a flow field of skin pattern using a measurement of local line direction and variation determined by the minimum eigenvalue and its corresponding eigenvector of the local tensor matrix to measure skin pattern disruption was computationally low cost and encouraging. This paper explores the possibility of extracting new features from the first and second differentiations of this flow field to enhance classification performance. METHODS: The skin pattern was extracted from WLC skin images by high-pass filtering. The skin line direction was estimated using a local image gradient matrix to produce a flow field of skin pattern. Divergence, curl, mean and Gaussian curvatures of this flow field were computed from the first and second differentiations of this flow field. The difference of these measures combined with skin line direction across the lesion image boundary was used as a lesion classifier. RESULTS: A set of images of malignant melanoma and benign naevi were analysed as above and the scatter plot in a two-dimensional dominant feature space using principal component analysis showed excellent separation of benign and malignant lesions. A receiver operating characteristic plot enclosed an area of 0.96. CONCLUSIONS: The experimental results show that the divergence, curl, mean and Gaussian curvatures of the flow field can increase lesion classifier accuracy. Combined with skin line direction they are promising features for distinguishing malignant melanoma from benign lesions and the methods used are computationally efficient which is important if their use is to be considered in clinical practice.     

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.     

Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring

The inheritance pattern of pseudoxanthoma elasticum (PXE) is controversial. Inheritance patterns are confounded by delayed diagnosis and mild or limited phenotypic expression among certain family members. Because testing for the genetic mutation(s) responsible for PXE is not routine, genetic counseling must be done with caution. We describe 4 families in which one or more children were diagnosed with PXE. Detailed examination of the parents was carried out, including skin biopsy and ophthalmologic examination. In 3 of the 4 families, one parent had limited phenotypic expression, such as ocular findings without skin lesions or very mild skin lesions with no ocular findings. In the other family, one parent had very mild skin and ocular disease. All 4 affected parents had diagnostic skin biopsy findings. In none of the 4 families was the inheritance pattern clear-cut. Although the inheritance pattern of PXE has been debated, clinically significant stigmata of PXE, which are not always readily apparent, can occur in successive generations. Therefore all first-degree relatives of affected patients should receive a full dermatologic examination as well as a funduscopic examination. If even mild typical skin or eye findings are present, then skin biopsy should be performed.     

Key points in dermoscopic differentiation between early acral melanoma and acral nevus

Acral skin is the most prevalent site of malignant melanoma in non-Caucasian populations. On acral skin, other various kinds of pigmented lesions are also detected. Particularly, melanocytic nevus is commonly seen on acral volar skin; approximately 10% of Japanese have a nevus on their soles. Prognosis of acral melanoma is still generally poor because of delayed detection in the advanced stages. To improve the prognosis, early detection is essential. Early acral melanoma is seen as a brownish macule, which is clinically quite similar to acral nevus. Therefore, clinicians often face a dilemma when they see a pigmented macule on acral volar skin. Introduction of dermoscopy was a great epoch in this field. Pigmentation pattern on dermoscopy is completely opposite between early acral melanoma and acral nevus; pigmentation on the ridges of the surface skin markings is detected in early acral melanoma, whereas pigmentation along the furrows of the skin markings is seen in acral nevus. We termed these dermoscopic patterns the parallel ridge pattern and the parallel furrow pattern, respectively. These features are highly helpful in the differentiation between the two biologically distinct entities. The sensitivity and specificity of the parallel ridge pattern in diagnosing early acral melanoma is 86% and 99%, respectively. However, we must be aware that dermoscopic features in acral nevus sometimes mimic the parallel ridge pattern and that other conditions also could show dermoscopic features similar to the parallel ridge pattern. In this review article, we summarize key points of the dermoscopic diagnosis of early acral melanoma and then describe the three-step algorithm for the management of acral melanocytic lesions, which surely aids us in effectively detecting early acral melanoma and in reducing unnecessary resection of benign nevus.     

Significance of dermoscopic patterns in detecting malignant melanoma on acral volar skin: results of a multicenter study in Japan

OBJECTIVE: To determine diagnostic variables such as sensitivity and specificity of the major dermoscopic patterns observed in melanocytic lesions on acral volar skin, with particular attention to the significance of the parallel ridge pattern and irregular diffuse pigmentation in detecting acral melanoma. DESIGN: Multicenter, retrospective study. SETTING: University hospitals in Japan. PATIENTS: Patients with melanocytic lesions on acral volar skin. A total of 712 melanocytic lesions (103 malignant melanomas, including 36 in situ lesions, and 609 melanocytic nevi) were consecutively collected from the files of 3 hospitals. Diagnoses of all the lesions had been determined histopathologically. INTERVENTIONS: Dermoscopic examination. MAIN OUTCOME MEASURES: The sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy of the major dermoscopic patterns seen in benign and malignant melanocytic lesions on acral volar skin. RESULTS: The parallel ridge pattern and irregular diffuse pigmentation showed extremely high specificity (99.0% and 96.6%, respectively) and very high negative predictive value (97.7% and 97.5%, respectively) in malignant melanoma. For melanoma in situ, the positive predictive value and diagnostic accuracy of the parallel ridge pattern were significantly higher than those of irregular diffuse pigmentation (P = .009 and P = .006, respectively). In melanocytic nevi, the specificity and positive predictive value of the parallel furrow pattern and/or the latticelike pattern were found to be very high (93.2% and 98.3%, respectively). CONCLUSIONS: Dermoscopy is immensely helpful in differentiating malignant melanomas from melanocytic nevi on acral volar skin. Moreover, the parallel ridge pattern aids in detecting acral melanomas in early, curable stages.     

Dermoscopic features of actinic keratosis

Actinic keratosis (AK) is a keratinocytic neoplasm that typically develops on sun‐damaged skin of elderly individuals. Only a few reports so far have described the dermoscopic diagnostic features of AK, mainly focusing on facial non‐pigmented AKs. A typical feature of facial non‐pigmented AK is a composite pattern named “strawberry pattern”, characterized by a background erythema/red pseudonetwork consisting of unfocused, large vessels located between the hair follicles, associated with prominent follicular openings surrounded by a white halo. Dermoscopic characteristics of pigmented AK on the face include multiple slate‐gray to dark‐brown dots and globules around the follicular ostia, annular‐granular pattern and brown to gray pseudonetwork. Recognizing specific dermoscopic features of AK can be useful in guiding the clinician in the differential diagnosis of AK with melanocytic skin lesions such as LM and non‐melanocytic lesions. Histopathologic examination should be performed whenever clinical and/or dermoscopic differential diagnosis is inconclusive.     

Noninvasive diagnosis in dermatology

In addition to dermoscopy, there are other imaging and biophysical methods for the noninvasive diagnosis of skin lesions. Confocal laser microscopy allows for high‐resolution imaging of the epidermis and upper dermis. It is particularly suitable in the differential diagnosis of melanocytic lesions. Optical coherence tomography (OCT) has a lower resolution compared to confocal laser microscopy but a greater depth of penetration. It is primarily used for imaging epithelial skin cancer, especially in the context of monitoring the effectiveness of nonsurgical therapies. Electrical impedance spectroscopy does not yield cutaneous images but rather provides a score based on the cellular irregularity of the skin. Multispectral analysis involves illumination of the skin with different wavelengths and likewise results in the computation of a score. Both methods are used in the differentiation of dysplastic nevi from melanoma. Other diagnostic imaging and biophysical methods are currently still in the developmental stages. By increasing the sensitivity and specificity of clinical and dermoscopic findings, the aforementioned methods bring about an improvement in noninvasive diagnosis. They allow for skin lesions to be monitored over time and therapeutic effects to be quantified. Finally, they facilitate early diagnosis of skin cancer, and help avoid unnecessary surgery of benign lesions.     

Pseudoverrucous papules: an aspect of incontinence in children

Pseudoverrucous papules and nodules can be observed on skin surrounding urostomies and colostomies. These lesions appear to be uncommon, and sometimes can be misdiagnosed, even leading to surgical removal. We report the case of a 12-year-old boy whose lesions appeared in crops in an area subjected to urine leakage and spontaneously regressed in time. In this patient, anogenital warts had to be ruled out, but many skin diseases must be considered in the differential diagnosis of these misunderstood lesions. We stress the importance of a skin examination by a trained professional aware of these problems to avoid unnecessary investigations and treatments.     

Dermoscopy in black people

BACKGROUND: Little is known about the use of dermoscopy in nonwhite-skinned populations and whether it can influence diagnostic performance. OBJECTIVES: To evaluate for the first time the utility and efficacy of dermoscopy in a black population for the diagnosis of pigmented cutaneous lesions. METHODS: In total, 100 consecutive clinically doubtful or equivocal pigmented skin lesions in black patients were submitted to dermoscopic examination. The lesions were observed using dermoscopy by two groups of dermatologists, one in Brazil (in vivo) and the other in Italy (on slide images). Besides diagnosis, each group recorded on the same type of form the dermoscopic features present. RESULTS: Of 100 clinically suspicious cases, 79 were Clark naevi, 15 seborrhoeic keratoses, four blue naevi, one dermatofibroma and one melanoma. The two groups of observers succeeded in identifying and classifying all the lesions to such a margin of diagnostic accuracy that only a few cases (three Clark naevi) were subjected to surgical excision to confirm diagnosis. CONCLUSIONS: Darker pigmentation of the skin does not impede the identification of single dermoscopic features. As in lighter-skinned populations, dermoscopy in black people can also lead to early and accurate diagnosis of melanoma, thereby significantly reducing the number of unnecessary excisions.