Cutis marmorata telangiectatica congenita: Report of 22 cases

Cutis marmorata telangiectatica congenita: Report of 22 cases

I I l I l I II II II I I I I Cutis marmorata telangiectatica congenita: Report of 22 cases David D. Picascia, MD, and Nancy B. Esterly, MD* C...

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Cutis marmorata telangiectatica congenita: Report of 22 cases David D. Picascia, MD, and Nancy B. Esterly, MD* Chicago, Illinois 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 th~ 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. (J AM Ac^o DERMATOL1989;20:1098-1104.) Recognition of cutis marmorata telangiectatica congenita as a distinct vascular defect usually is attributed to Van Lohuizen.' In 1922 he described a child with unusual skin lesions that resembled live,do reticularis and that were accompanied by telangiectases and superficial ulcerations. The patient's clinical course was characterized by steady improvement in the appearance of the lesions over an 18-month period. Cases of curls marmorata telangiectatica congenita were published later under various names, including congenital generalized phlebectasia,2,3 congenital phlebectasia, 4 nevus vascularis reticularis, 5 and congenital livedo reticularis. 6,7 Although there is some difference of opinion regarding the correct terminology for this condition, cutis marmorata telangiectatica congenita has been the preferred designation in recent years. Those authors who favor this term point out that the abnormality is both capillary and venous; therefore phlebectasia is a misnomer. Moreover, the term cutis marmorata telangiectatica congenita accurately describes the clinical pic-

From the Departments of Dermatology and Pediatrics, Northwestern University Medical School, and Children's Memorial Hospital, Chicago. Reprint request.s: Nancy B. Esterly, MD, Division of Dermatology, Children's Hospital of Wisconsin, P.O. Box 1997, 9000 W. Wisconsin Ave,, Milwaukee, WI 53201. *Present affiliation: Departments of Pediatrics and Dermatology, Medical College of Wisconsin, Milwaukee.

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ture. Some of the confusion undoubtedly stems from the broad spectrum of skin changes in this entity, ranging from atrophic or ulcerated purple reticulated bands to an exaggerated cutis marmorata pattern (Fig. 1). In 1970 Petrozzi et al. 8 reported the first American case of cutis marmorata telangiectatica congenita combined with other congenital defects. Since then, the association of this disease with various developmental anomalies has been noted by many authors, 3,s~2 and in one extensive review '3 50% of the cases summarized were found to have additional abnormalities. We report 22 cases of cutis marmorata telangiectatica congenita seen at Children's Memorial Hospital in Chicago from July 1979 to August 1987. Only six (27%) of the patients had associated abnormalities, and, in four, these defects were limited to the skin. PATIENTS AND METHODS All cases of cut.is marmorata telangiectatica congeni 7 ta evaluated in the Dermatology Clinic of Children's Memorial Hospital in Chicago between July 1979 and August 1987 are included in this report. The diagnosis was made clinically; skin biopsies were not performed. Curls marmorata telangiectatica congenita was defined as a widespread or segmental cutaneous pattern of blue-violet reticulated bands that was relatively fixed and readily discernible at rest. Atrophy and ulceration of the involved skin were considered characteristic features but were not required for diagnosis.

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Cutis marmorata telangiectatica congenita 1099

T a b l e I. P e r t i n e n t findings in 22 patients with curls marmorata telangiectatica congenita

No 1 2

Pt,en,I

I

11 yr 11 yr

I F M

I

Dis ib.,o. Right leg, hip, arm Superior portion of thorax, the neck, and inner part of arms Left leg, arm, trunk, and face

3*

3 mo

F

4 5 6 7 8

1 6 4 4 3

mo mo mo mo mo

F F F F M

9

1 mo

M

10

2 mo

F

11 12 13

lyr 1 mo 2 mo

IV[ M F

14

1 mo

M

15

2 mo

F

Left portion of trunk and left limbs Left forearm Entire trunk and all limbs Generalized, sparing only upper portion of face and fight upper part of trunk Right shoulder, arm, and thumb Left arm and hand

16 17 18

8 mo 1 mo 2 wk

F F M

Left leg and foot Left flank and leg Left leg and foot

19

1 mo

M

Back

20 21 22

2 mo 1 mo 2 wk

M F F

Left leg and buttock Left leg and buttock Upper part of back and both arms

Right leg and back All limbs Right arm and left leg Both legs and buttocks Right flank, back, lower portion of abdomen Both legs and buttocks

A sool., ,ndi.gs None None Congenital generalized fibromatosis; left ocular cataract and glaucoma; left hemiatrophy; porencephaly None None None None None Nevus flammeus of fight arm and fight side of chest Nevus flammeus of fight side of thorax, buttocks, and thigh None None None

Venous malformation in same area Focal cutaneous atrophy on left hand and arm None Atrophy in left leg lesions Mild focal cutaneous atrophy; congenital pigmented nevocytic nevus on lower left part of back Nevus flammeus of entire face and fight leg; bilateral glaucoma None None Atrophy in reticulated bands on back and arms

*Same patient who is described in reference 14.

A complete history was obtained and a physical examination performed. Limb measurements were recorded on all children with lesions involving the arms and legs. The diagnosis was conveyed to the referring physician with an explanation of expected course and outcome. Of the 22 patients 10 returned for one or more subsequent visits. RESULTS

Pertinent findings in the 22 patients are listed in T a b l e I. F o u r t e e n were female children and eight

were male. Except for one case the lesions were noted at birth. The exception, an infant who was referred to us at age 4 months, was said to have had onset of her lesions at age 2 months. Unfortunately, we were unable to verify whether cutis marmorata telangiectatica congenita was documented on examination in the newborn nursery. Fifteen infants were evaluated within the first 3 months of life, three between 4 and 6 months of age, and two by 1 year. The remaining two children were first examined by us at 11 years of age.

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Journal of the American Academy of Dermatology

Picascia and [email protected]

C Fig. 1. A, B, and C, Cutis marmorata telangiectatica congenita in three young infants, which shows a spectrum of changes from deep-purple depressed patches to an exaggerated fixed cutis marmorata pattern.

In nine cases the lesions were limited to the left side of the body; in five cases, the right side of the body was involved exclusively. Fourteen patients had lesions on the trunk and one or more limbs, two had involvement of the trunk only, and in six cutis

marmorata telangiectatica congenita was restricted to one or more limbs. Two children had facial lesions in addition to involvement elsewhere. None had mucous membrane lesions. In eight patients, one to several ulcerations were noted overlying the

Volume 20 Number 6 June 1989

reticulated bands; all healed in the first few months without incident. Four patients had focal cutaneous atrophy but no ulcerations in the involved areas. Three patients had an associated nevus flammeus. In two it involved a limb and a portion of the trunk. In case 19 the nevus flammeus involved the entire face, and bilateral glaucoma developed. The patient in case 3, described by Spraker et al., '4 had congenital generalized fibromatosis, porencephaly, left ocular cataract and glaucoma, left hemiatrophy, and unilateral cutis marmorata telangiectatica congenita. No other patients had atrophy or hypertrophy of the involved part, and no significant discrepancies in limb measurements were recorded. Additional findings of note included a congenital pigmented nevus in case 18. Case 19 appeared to have a localized venous malformation in the same area as the cutis marmorata telangiectatica congenita; the latter lesions faded gradually, whereas the bluish ectatic veins persisted unchanged. Ten patients were seen in follow-up visits, and in six there was discernible fading of the lesions. DISCUSSION

The term cutis marmorata telangiectatica congenita is used to describe a reticulated cutaneous vascular network of blue-violet color that can be localized or generalized and usually is present at birth. When localized, the distribution often is segmental with sharp demarcation of lesions at the midline. The areas of skin enclosed by the reticulated pattern may be normal or erythematous. Telangiectases sometimes are noted in association with the reticulated bands, as are patches of discoloration that resemble venous lakes. The redpurple hue of the lesions may be enhanced by a decrease in ambient temperature, by vigorous movement, or by crying; however, the marbled pattern always is readily discernible even when the infant is warm and at rest. Although some lesions can be blanched readily on palpation, others are incompletely obliterated, even with firm pressure. With time the lesions may fade until barely perceptible and, in some patients, are said to disappear entirely. In others, however, the lesions remain relatively fixed throughout life. The histologic findings in biopsy specimens from affected patients have varied considerably and are nondiagnostic. Van Lohuizen 2 described dilated capillaries in all layers of the dermis and subcutaneous tissue, as well as dilated veins and capillary

Cutis rnarrnorata telangiectatica congenita

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and venous lakes. In contrast, Petrozzi et al. 8 detected no vascular abnormalities in a biopsy specimen from their patient. Andreev and Pramatarov ~s observed swelling of endothelial cells in addition to capillary dilation. A few authors have reported a sparse pefivascular lymphocytic infiltrate within the dermis. < 22.26 Ultrastructural studies performed by Lynch and Zelickson 4 disclosed increased numbers of perithelial cells, whereas Way et al. ~ described an atypical vascular endothelium with a discontinuous basal lamina. Despite these histologic differences the reticulated pattern of cutis marmorata telangiectatica congenita is believed to represent an abnormal dilation of capillaries and veins. The cause of cuffs marmorata telangiectatica congenita is unknown. Although the disorder appears to be sporadic in most instances, a genetic basis has been proposed by some authors. Andreev and Pramatarov ~s described the eases of two sisters and suggested that the condition might be inherited as a dominant trait with low penetrance. Kurczynski 2~reported the case of a 4-year-old girl with cutis marmorata telangiectatica congenita whose father and paternal grandmother had similar lesions, and he postulated autosomal dominant inheritance. In a report of three cases and an extensive review of the literature, Way et al. 13 noted an overwhelming sporadic occurrence, female preponderance, and considerable clinical variability. Occasional minor anomalies among close relatives of patients were noted. They proposed a multifactorial cause for cutis marmorata telangiectatica congenita. More recently, Rogers and Poyzer f7 described four patients with cutis marmorata telangiectatica congenita who were born during an 1 8-month period and whose mothers lived within a 1 9.2 km radius in Sydney, Australia. They suggested that the clustering of these families pointed to the involvement of a common teratogenic factor. Atrophy of the skin and subcutis in the reticulated bands of cutis marmorata telangiectatica congenita has been reported by many authors) -s,9,22,~4-~6 The atrophy m a y be sufficiently extensive as to result in a measurable decrease in circumference of an affected limb. In some instances this discrepancy has become less pronounced over time. 17 Ulceration also can be a prominent finding/, ~2,2~.,8-20 as it was in Van Lohuizen's patient. The ulcerations usually heal without incident; however, scarring is not unexpect-

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ed. Persistent ulceration and resultant infection have been distressing complications in severely affected infants and in adults with extensive, long-standing cutis marmorata telangiectatica congenita. In addition to atrophy and ulceration of the involved skin, hypertrophy 3,9,,3, ~9 and atrophy 3,13.19 of the involved portion also have been observed. Petrozzi et al. 8 reported the first American case of cutis marmorata telangiectatica congenita combined with other congenital defects, specifically Sturge-Weber syndrome and patient ductus arteriosus. Subsequently, Way et al. ~3 reviewed the literature on cutis marmorata telangiectatica congenita and noted associated abnormalities in more than 50% of the 41 reported cases. Hypoplasia or hyperplasia of an affected or unaffected limb was the most common defect. Other associated findings included capillary hemangioma, asymmetric skull, micrognathia, triangular face, scaphoid scapulae, dystrophic teeth, high-arched palate, syndactyly of toes, short stature, short fingers, and acral cyanosis. Lee et al. ~2 reported a case of Curls marmorata telangiectatica congenita with mental retardation, cleft palate, simian lines on the palms, diffuse demineralization of bones, and weakness of the long extensor muscles of both thumbs; they suggested that the term cutis marmorata with multiple congenital abnormalities replace cutis marmorata telangiectatica congenita. Additional cases have been described in association with aplasia cutis congenita 3 spina bifida, ~9 neonatal ascites, 1~ and macrocephaly. 9 Our series of patients with cutis marmorata telangiectatica congenita for the most part, resembles others in the literature. There is a predominance of female children (64%), as also was noted by Way et al.~3 and Powell and Su ~9 in their own patients and in patients reviewed from the literature. Although South and Jacobr reported a preponderance of male patients in their series, in fact the ratio of male to female patients was 7:6, certainly not an overwhelming difference. The predilection of cutis marmorata telangiectatica congenita for female children, if it is real, is interesting in view of a similar predilection for hemangiomas,2~ another vascular defect with the potential for spontaneous involution. All our patients but one were noted to be affected at birth. Although absence of cutis marmorata telangiectatica congenita at birth appears to be a contradiction in terms, there is some

Journal of the American Academy of Dermatology precedence for this in the literature. Powell and Su ~9 noted delayed onset (a t 8 and 18 months, respectively) in two of their patients and cite other reported cases in which discernible lesions were not present at birth. In retrospect, it is difficult to know if the lesions were missed on the neonatal examination or whether these cases represent a subset of cutis marmorata telangiectatica congenita with delayed onset or an entirely different vascular disorder. Certainly our clinical findings were otherwise as typical of cutis marmorata telangiectatica congenita as were those of Powell and Su. Focal atrophy was detected in four of our patients (cases 15, 17, 18, 22), but in none was it severe enough to cause a significant difference in a limb girth. Likewise, the ulcerations in 12 of these patients healed promptly and without complications. We recognize, however, that the cases of the infants and children in our series were not followed on a long-term basis. It is conceivable that additional changes might have developed at a later date in view of the reports of adults with cutis marmorata telangiectatica congenita a n d persistent ulcerations and atrophy. It is also possible that atrophy or hypertrophy of an involved limb might have become apparent over time. Most of the patients, however, were referred by pediatricians in the community, and we are unaware of any such developments in this group of children. Of the 22 patients 6 had associated anomalies; it is noteworthy that only 2 (cases 3 and 19) had defects in organs other than the skin. Three patients (cases 9, 10, and 19) had an associated nevus flammeus. Nevus flammeus in association with culls marmorata telangiectatica congenita also has been reported by Petrozzi et al., 8 South and Jacobs, 3 and Stephan et al.9 Because nevus flammeus is a malformation of the dermal capillaries) t it is possible that the pathogenetic mechanisms involved in these two vascular disorders are similar. Glaucoma is a well-known accompaniment of nevus flammeus, which involves skin innervated by the ophthalmic branch of the trigeminal nerve. In Petrozzi's cases and in our case 19 the occurrence of glaucoma undoubtedly was related to the nevus flammeus. Our patient 3 with cutis marmorata telangiectatica congenita, however, which involved the left side of the face, also had glaucoma in the left eye. This association might have been coincidental or might have occurred by a similar mechanism. Several authors have reported cutis

Volume 20 Number 6 June 1989 marmorata telangiectatica congenita involving the face, but none have noted concomitant glaucoma. The incidence of associated defects in our group of patients (27%) is lower than that found in other series. This discrepancy might be accounted for by the relatively short-term follow-up of our cases, less thorough examination or reporting, or a different population sample. Nevertheless, it is our impression that cutis marmorata telangiectatica congenita is usually a relatively benign condition. Many of the so-called defects reported in association with this condition, for example, syndactyly of toes, high-arched palate, cleft palate, short stature, and triangular face, might be coincidental expressions of genetic traits and thus totally unrelated. Furthermore, cases of cutis marmorata telangiectatica congenita as a solitary abnormality tend to be underreported because this vascular lesion is well known to dermatologists. Cutis marmorata telangiectatica congenita must be differentiated from several other vascular disorders, including Bockenheimer's syndrome (diffuse genuine phlebectasia), 3' t6.22 a rare and progressive condition. In contrast to curls marmorata telangiectatica congenita, Bockenheimer's syndrome has its onset in childhood and is characterized by the gradual development of multiple large and often painful venous ectasias, usually affecting a single limb. Klippel-Trenaunay-Weber syndrome2~ also has been confused with cutis marmorata telangiectatica congenita. These patients have a vascular lesion (most often a port wine stain), venous varicosities, and hypertrophy of soft tissues and sometimes bones of involved parts. The vascular nevus is always present at birth, but the venous varicosities may not be visible until the child begins to ambulate. Even more confusing are the cases of patients with light-colored port wine stains that have a reticulated appearance. In these patients it is often difficult to be sure of the correct diagnosis, and long-term follow-up may offer the only avenue to certainty. Finally, homocystinuria, Down syndrome, and de Lange's syndrome are congenital disorders associated with a pronounced physiologic cutis marmorata that must be considered in the differential diagnosis of cutis marmorata telangiectatica congenita, but usually other clinical features will differentiate them. Although neonatal lupus erythematosus also may present a livedo pattern, the appropriate serologic tests in infant and mother will clarify the diagnosis? ~

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In conclusion, we report 22 cases of cutis marmorata telangiectatica congenita evaluated during an 8-year period. In this group o f patients the incidence of associated anomalies was relatively low (27%) compared with those of other published series. Nevertheless, we believe t h a t for all patients with cuffs marmorata telangiectatica congenita a thorough history should be taken and a physical examination with documentation o f all abnormal findings should be performed. A n ophthalmologic examination is recommended for patients with cutis marmorata telangiectatica congenita or an associated port wine stain of the face. Publication of additional series of patients with curls marmorata telangiectatiea congenita m a y help to put the issue of associated anomalies in proper perspective. REFERENCES

1. Van Lohuizen CHJ. Ober eine seltene angeborene Hautanomalie (Cutis marmorata telangiectatica congenita). Acta Derm Venereol (Stockh) 1922;3:202-11. 2. Humphries JM. Generalized congenital phlebeetasia. J Pediatr 1952;40:486-8. 3. South DA, Jacobs AH. Cutis marmorata telangiectatica eongenita (congenitalgeneralized phlebectasia). J Pediatr 1978;93:944-9. 4. Lynch PJ, ZelicksonAS. Congenital ph]ebectasia. Arch Dermatol 1967;95:98-101. 5. Brain RT. Naevus vascularis reticularis. Proc Roy Soe Med 1954;47:172-3. 6. ChampionRH. Livedoreticularis. A review. Br J Dermatol 1965;77:167-79. 7. Williams CM, Goodman H. Livedo reticularis. JAMA 1925;85:955-8. 8. Petrozzi JW, Rahn EK, Mofenson H, et al. Curls marmorata telangiectatica congenita. Arch Dermatol 1970;101:74-7. 9. Stephan MJ, Hail BD, Smith DW, et al. Macrocephalyin association with unusual cutaneous angiomatosis. J Pediatr 1975;87:353-9. 10. KurczynskiTW. Hereditary curls marmorata telangiectaflea congenita.Pediatrics 1982;70:52-3. 11. Schultz RB, KocoshisS. Cutis marmorata telangiectatica congenita and neonatal ascites. J Pediatr I979;95:157. 12. Lee S, Lee JB, Kim JH, e t a l . Cutis marmorata telangiectatica with multiple congenital anomalies (Van Lohuizen's syndrome). Dermatologica 1981;163:40812. 13. Way BH, Herrmann J, Gilbert EF, etal. Curls marmorata telangiectaticacongenita. J Cutan Pathol 1974;1:1025. 14. Spraker MK, Stack C, Esterly NB. Congenital generalized fibromatosis:a reviewof the literature and report of a case associatedwith porencephaly, hemiatrophy, and curls marmorata telangiectaticacongenita. J AM ACADDERMA"rOE1984;10:365-71. 15. AndreevJC, Pramatarov K. Cutis marmorata telangiectatica congenita in two sisters. Br J Dermatol 1979; 101:345-50.

Picascia and Esterly 16. Dupont C. Cuffs marmorata telangiectatica congenita (Van Lohuizen's syndrome). Br J Dermatol 1977;97: 437-9. t7. Rogers M, Poyzer KG. Cutis marmorata telangiectatica congenita. Arch Dermato! 1982;118:895-9. 18. Fitzsimmons JS, Starks M. Cutis marmorata telangiectatica congenita or congenital generalized phlebectasia. Arch Dis Child 1970;45:724-6. 19. Powell ST, Su WPD. Cutis marmorata telangiectatica congenita: report of nine cases and review of the literature. Cutis 1984;34:305-12.

Journal of the American Academy of Dermatology

20. Moyer DG. Cutis marmorata telangiectatica congenita. Arch Dermatol 1966;93:583-4. 2t. Esterly NB. Cutaneous hemangiomas, vascular stains, and associated syndrome~s. Curr Probl Pediatr 1987; 17(1):I-69. 22. Freund E. Diffuse genuine phlebectasia. Arch Surg 1936; 33:113-21. 23. Greist MC, Probst E. Cuffs marmorata telangiectatica congenita or neonatal lupus. Arch Dermatol 1980; t 16:1102-3.

Dermal hematopoiesis in neonates: Report of five cases J. Bradford Bowden, MD, Adelaide A. Hebert, MD, and Ronald P. Rapini, M D

Houston, Texas We report five cases of dermal hematopoiesis in newborn infants. Dermal hematopoiesis, manifested clinically as a blueberry muffin eruption, has been associated with both intrauterine viral infections and congenital hematologic dyscrasias. Of our five patients, four of whom were boys, the cutaneous findings could be attributed to congenital infections in two instances. The infectious agents were cytomegalovirus and coxsackie virus B-2. Two infants had hematologic abnormalities, including twin transfusion syndrome and ABO blood group incompatibility. In our fifth patient a cause was not identified. (J AM ACAD DERMATOL1989;20:1104-10.)

Blueberry muffin eruptions in the neonate caused by d e r m a l hematopoiesis have been associated with both intrauterine viral infections (rubella and cytomegalovirus) ~,2 and congenital hematologic dyscrasias (hereditary spherocytosis, 3 Rh hemolytic disease of the newborn, 4 and the twin transfusion s y n d r o m e ? W e report the clinical and pathologic findings associated with dermal hematopoiesis in the newborn and s u m m a r i z e its causes. We report two possible causes not previously described, a n d we suggest a screening evaluation for infants with similar cutaneous findings. CASE REPORTS Case 1 A full-term black female (weighing 3380 gin) was born to a 21-year-old gravida 2, para 0 R h + mother From the Departmentsof Dermatologyand Pediatrics, Universityof Texas Medical School. Reprint requests:AdelaideA. Hebert, MD, 6431 Fannin,Suite 1.204, Houston, TX 77030. 1104

with blood type O who had had one abortion. The maternal rubella antibody titer was 1 : 120 at 15 weeks' gestation. The pregnancy was complicated by a viral illness during the first trimester. At birth the infant had multiple nonblanchable, violaeeous papules, 1 to 3 mm in diameter, on her face, back, abdomen, and legs (Fig. 1). Laboratory tests showed the following values: a WBC count of 40,000/ram, z a hemoglobin of 20.2 gm/dl, a hematocrit of 60.0%, and a platelet count of 57,000/ mm 3. The differential count was normal, and there were 42 nucleated RBCs/100 WBCs. The prothrombin time (PT) and partial thromboplastin time (PTT) were elevated, but fibrinogen and fibrin split products were normal. Total/direct bilirubin levels were 17.0/9.6 rag/ dl. AST (SGOT) count was 2535 U / L , and a hepatitis screen (hepatitis B surface antigen, anti-hepatitis B surface antibody, and anti-hepatitis A virus) showed negative findings. The infant's blood type was O, Rh+; results of direct and indirect Coombs' test were negative. Biopsy specimens of a papule on the lower portion of the back showed RBCs with immature myeloid forms