OBSERVATION The Misnomer “Macrocephaly–Cutis Marmorata Telangiectatica Congenita Syndrome” Report of 12 New Cases and Support for Revising the Name to Macrocephaly–Capillary Malformations Dakara Rucker Wright, MD; Ilona J. Frieden, MD; Seth J. Orlow, MD, PhD; Helen T. Shin, MD; Sarah Chamlin, MD; Julie V. Schaffer, MD; Amy S. Paller, MD Background: The condition known as macrocephaly– stains (PWS), not CMTC. Seven of the 12 patients also cutis marmorata telangiectatica congenita syndrome had centrofacial capillary malformations. In our com- (M-CMTC) is a rare congenital syndrome of unknown prehensive review of 100 previously reported cases, only etiology characterized by macrocephaly and vascular le- 34 were accompanied by photographs that were suffi- sions that have been described as either cutis marmo- ciently clear to review for diagnostic purposes. None had rata or cutis marmorata telangiectatica congenita (CMTC). true CMTC, with most having reticulated PWS or per- Most patients also exhibit facial and limb asymmetry; so- sistent cutis marmorata. matic overgrowth; developmental delay; capillary mal- formations of the nose, philtrum, and/or upper lip; neu- Conclusions: Reticulated or confluent PWS and persis- rologic abnormalities; syndactyly or polydactyly; tent capillary malformations of the central face, rather craniofacial abnormalities; and joint laxity or soft skin. than CMTC, are the most characteristic cutaneous vas- cular anomalies seen in so-called M-CMTC syndrome. Observations: We describe 12 patients with this con- The name macrocephaly–capillary malformations (M-CM) dition from tertiary care medical centers (8 cases) and more accurately reflects the features of this syndrome. accrued via an M-CMTC support group Web site (4 cases). All patients showed reticulated or confluent port-wine Arch Dermatol. 2009;145(3):287-293 HE SYNDROME MACRO- Recently, Toriello and Mulliken5 pro- cephaly–cutis marmorata posed that this condition be renamed telangiectatica congenita macrocephaly–capillary malformations (M-CMTC) is character- (M-CM) based on similar observations. We ized by macrocephaly provide further support for a change in the T(Ͼ95th percentile) and cutaneous vascu- name of this syndrome from M-CMTC to lar anomalies that have been called “cutis M-CM to more accurately describe the as- marmorata telangiectatica congenita sociated vascular anomalies. Further- (CMTC),”1,2 in association with several mi- more, we suggest revised clinical criteria Author Affiliations: nor features.3,4 Making a definitive diag- based on these 112 patients for establish- Department of Dermatology, nosis has been difficult owing to the lack ing a diagnosis of M-CM (Table 1). Henry Ford Hospital, Detroit, of clear criteria, especially precise recog- Michigan (Dr Wright); nition of the associated cutaneous vascu- METHODS Department of Dermatology lar findings. and Pediatrics, University of California, San Francisco We now describe 12 new patients with This study was approved by the institutional re- (Dr Frieden); Department of a diagnosis of M-CMTC syndrome. We view board of Children’s Memorial Hospital, Chi- Dermatology, New York have also reviewed 100 previously re- cago, Illinois (CMH). All possible new cases, as University Medical Center, ported cases of M-CMTC and examined well as those reviewed in the literature, were New York (Drs Orlow and all published photographs of these cases. screened for having M-CMTC if the patients had Schaffer); Department of Based on our own experiences with pa- the major findings of macrocephaly and a vas- Pediatric Dermatology, tients with this condition and review of cular malformation (CTMC or capillary malfor- Hackensack University Medical previously reported cases, we have ob- mation/PWS). In addition to these 2 major cri- Center, Hackensack, New Jersey served that the vascular anomalies are not teria, patients were required to have at least 2 (Dr Shin); and Departments of additional minor characteristics as set forth by Dermatology and Pediatrics, true CMTC but rather capillary malfor- Franceschini et al6 and Robertson et al7 (Table 1). Northwestern University mations in the form of reticulated port- At CMH, the medical charts of all patients with Feinberg School of Medicine, wine stains (PWS) of the torso and a diagnosis of vascular malformation (Interna- Chicago, Illinois (Drs Wright, extremities and centrofacial capillary mal- tional Classification of Diseases, Ninth Revision Chamlin, and Paller). formations (eg, persistent salmon patches). [ICD-9] code 709.1), PWS (ICD-9 code 757.32) (REPRINTED) ARCH DERMATOL/ VOL 145 (NO. 3), MAR 2009 WWW.ARCHDERMATOL.COM 287 ©2009 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/24/2021 Table 1. Major and Minor Clinical Criteria Modified for the Diagnosis of M-CM Present in Our 12 Reported Cases Patient No./Sex/Age Criteria 1/M/12 y 2/F/19 mo 3/M/4 y 4/M/15 mo 5/M/4 mo 6/F/2 y Major Criteria (Requires Both) Macrocephaly (Ͼ95th percentile) ϩϩ ϩ ϩϩϩ Capillary malformation (PWS) ϩϩ ϩ ϩϩϩ Minor Criteria (at Least 2) Asymmetry or overgrowth ϩϩ ϩ ϩϩϩ Developmental delay ϩϩ ϩ ϩ−− Midline facial capillary ϩϩ − ϩϩ− malformations Neonatal hypotonia − ϩ −−−− Syndactyly or polydactyly − ϩϩ− ϩϩ Frontal bossing − ϩ −−−− Joint hypermobility, − ϩ −−−− hyperelastic skin Hydrocephalus − − − − − − Additional Findings in Our Patients Upturned Mild Dental malocclusion; Kasabach-Merritt None Macrodactyly nose and ventriculomegaly Wilms tumor, syndrome of L foot, upper lip, with possible hypertrophy of R second associated with a hypertelorism, angelic Chiari type I and third toes, thickened tufted angioma, full lips facies, malformation; skin and prominent wide space headaches doughy ears, creases on plantar between first and hypertelorism surfaces, lipomas on R second toes, wide-spaced toes dorsal foot, macrodactyly, dermatomyofibroma, full lips negative PTEN testing Patient No./Sex/Age Total No.a Criteria 7/F/4 y 8/F/10 y 9/F/8 mo 10/M/4 y 11/F/3 y 12/F/5 y (%) Major Criteria (Requires Both) Macrocephaly (Ͼ95th percentile) ϩϩϩϩϩϩ12 (100) Capillary malformation (PWS) ϩϩϩϩϩϩ12 (100) Minor Criteria (at Least 2) Asymmetry or overgrowth ϩϩϩϩϩϩ12 (100) Developmental delay ϩϩϩϩϩϩ10 (83) Midline facial capillary − ϩϩ−−ϩ 7 (58) malformations Neonatal hypotonia ϩϩϩϩ− ϩ 6 (50) Syndactyly or polydactyly − ϩ − − − − 5 (42) Frontal bossing ϩϩϩϩ− − 5 (42) Joint hypermobility, −−ϩϩ− ϩ 4 (33) hyperelastic skin Hydrocephalus ϩϩ−−−ϩ 3 (25) Additional Findings in Our Patients Ventriculomegaly, Seizures, Hypertelorism, Twin B; seizures, None Wide space preventricular Arnold-Chiari type low-set ears, syringomyelia between first and contractions and I malformation, wide space with tethered second toes, atrial septal defect syringomyelia, between first cord, wide space macrodactyly of (resolved), spinal lipoma, and second between first and second toes scoliosis, leg macroglossia, high toes, R cheek second toes, cramping, wide arched palate, fuller than L, macrodactyly of space between first hypertelorism, flat flat nasal first 3 toes, and second toes, nasal bridge, flat bridge, PTEN tracheobronchial hypertelorism, full feet, bilateral negative abnormality, high face and lips supernumerary arched palate, digits, scoliosis carotid artery thrill Abbreviations: L, left; M-CM, macrocephaly–capillary malformation; PWS, port-wine stain; R, right; ϩ and − signs, the presence or absence of a feature, respectively. aMeans total number in which the feature was present. and CMTC (also ICD-9 code757.32) in the electronic database PWS or CMTC were screened. When information about head cir- were reviewed; in addition, all patients with a Kodachrome (East- cumference was not available in a patient’s medical chart, the pe- man Kodak, Rochester, New York) or electronic photograph of diatrician was contacted to determine the presence or absence of (REPRINTED) ARCH DERMATOL/ VOL 145 (NO. 3), MAR 2009 WWW.ARCHDERMATOL.COM 288 ©2009 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/24/2021 A B Figure 1. Patient 4 at 10 days old, showing a midfacial capillary malformation of the lip, philtrum, and glabella (A). The reticulated port-wine stain (PWS) is extensive on the trunk and extremities. Note the presence of a large tufted angioma on left shoulder (arrow), making the right hemihypertrophy difficult to appreciate. B, By 8 months, the midfacial capillary malformation of the lip, philtrum, and glabella of the patient remain, but the reticulated PWS has considerably faded. The tufted angioma has now been partially excised, allowing one to better appreciate the right hemihypertrophy. macrocephaly. Other features were tallied if both a vascular mal- formation and macrocephaly were confirmed. Two patients were identified based on these measures. At sites other than CMH, pa- tients’ conditions were evaluated based on author recall (6 pa- tients). Patients included from the M-CMTC support group Web site were evaluated based on information from the parents (tele- phone conversation) and pediatrician (medical records), as well as photographs (4 patients). Photographs of all cases were reviewed by 3 of us D.R.W., I.J.F., and A.S.P.) to characterize the vascular anomalies. An interna- tional literature search was performed using the National Li- brary of Medicine PubMed database of the National Institutes of Health (covering the period 1966 through fall 2006) using the terms “macrocephaly–cutis marmorata telangiectatica conge- nita,”