September 1975 The Journal o f P E D I A T R I C S
353
Macrocephaly in association with unusual cutaneous angiomatosis Ten patients are presented who demonstrate a newly recognized association of macrocephaly with unusual angiomatosis and limb asymmetry in three somewhat similar cutaneous vascular disorders: KlippelTrenaunay-Weber syndrome, the combination of Sturge-Weber anomaly with Klippel-Trenaunay-Weber syndrome, and cutis marmorata telangiectatica congenita. The etiology of the macrocephaly in patients with these conditions is unknown. The majority (seven of ten) of these children have no evidence of central nervous system dysfunction. M a r k J . S t e p h a n , M . D . , Seattle, Wash., B r y a n D. H a l l , M . D . , S a n Francisco, Calif., D a v i d W . S m i t h , M . D . , * a n d M . M i c h a e l C o h e n , J r . , D . M . D . , Seattle, Wash.
THE ASSOCIATION o f macrocephaly with cutaneous and subcutaneous angiomatosis is recognized in several patterns o f malformation. These include disseminated hemangiomatosis, 1 neurofibromatosis, 2 Riley-Smith syndrome, a the Bannayan syndrome, 4 and the BeckwithW i e d e m a n syndrome? It is the purpose o f this p a p e r to emphasize this association and to report the previously unrecognized occurrence of macrocephaly as a frequent component in children with K l i p p e l - T r e n a u n a y - W e b e r syndrome, the combination o f K l i p p e l - T r e n a u n a y - W e b e r syndrome and Sturge-Weber anomaly, and cutis m a r m o rata telangiectatica congenita. In addition to angiomata, most o f the patients exhibit asymmetric hypertrophy o f one or more limbs.
CASE REPORTS Characteristic features of these ten Caucasian patients are summarized in Table I, and head circumference growth data in From the Dysmorphology Unit, Department of Pediatrics, University of Washington School of Medicine, and the Department of Pediatrics, University of California School of Medicine. Supported by the Maternal and Child Health Services, Health Services and Mental Administration, Department of Health, Education & Welfare, Project 913," National Institutes of Health Grant No. HD 05961; Public Health Service Grant No. GM 15253; and The National Foundation-March of Dimes. *Reprint address: Professor in Pediatrics, RR234 Health Sciences, RD-20, University of Washington School of Medicine. Seattle,. Wash. 98195.
Fig. 1. The following is a summary of additional pertinent information relative to each of the patients. These are subdivided into three general overlapping categories, the common features of which are set forth in Table II. Klippel-Trenaunay-Webersyndrome. Patient 1. This adopted female was born of a normal gestation with a birth weight of 4 kg and head circumference at 5 weeks of age of 43 cm. There were diffuse hemangiomatous lesions on the left side of the body, right arm, and right axllla (Fig. 2) at 3 years of age. Brownish nevoid streaks were intermingled with some of the nonelevated hemangiomatous lesions. Roentgenographic evaluation revealed an enlarged but otherwise normal cranium. Generalized enlargement of the right kidney was noted by intravenous pyelography. At 6 1/2 years of age weight and height persisted at the ninetieth percentiles and there had been no progression of the asymmetry, the left leg being 1.5 cm longer than the right. She was doing well in school. Patient 2. This adopted girl was born to a 16-year-old mother and 18-year-old father. At- 6 3)4 years she was short (106.6 cm) with macrocephaly and her right leg was enlarged with multiple arteriovenous fistulas having been demonstrated by arteriogram. There was asymmetric enlargement of the third and fourth toes. Patient 3. This boy was born to a 22-year-old father and a 20year-old mother after a 37-week gestation. Birth weight was 3.0 kg, length 48 cm, and head circumference 36.5 cm. There was a large omphalocele, an extensive strawberry hemangioma from the left axilla to the distal forearm, inguinal hernias, and at 6 weeks of age pyloric stenosis was corrected. At 7 months of age, the nevus vasculosus of the left arm had substantially involuted, but the left arm remained noticeably larger circumferentially than the right arm. Skull roentgenograms
VoL 87, No. 3, pp. 353-359
354
Stephan et al.
The Journal o f Pediatrics September 1975
561
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353
Macrocephaly in association with unusual cutaneous angiomatosis Ten patients are presented who demonstrate a newly recognized association of macrocephaly with unusual angiomatosis and limb asymmetry in three somewhat similar cutaneous vascular disorders: KlippelTrenaunay-Weber syndrome, the combination of Sturge-Weber anomaly with Klippel-Trenaunay-Weber syndrome, and cutis marmorata telangiectatica congenita. The etiology of the macrocephaly in patients with these conditions is unknown. The majority (seven of ten) of these children have no evidence of central nervous system dysfunction. M a r k J . S t e p h a n , M . D . , Seattle, Wash., B r y a n D. H a l l , M . D . , S a n Francisco, Calif., D a v i d W . S m i t h , M . D . , * a n d M . M i c h a e l C o h e n , J r . , D . M . D . , Seattle, Wash.
THE ASSOCIATION o f macrocephaly with cutaneous and subcutaneous angiomatosis is recognized in several patterns o f malformation. These include disseminated hemangiomatosis, 1 neurofibromatosis, 2 Riley-Smith syndrome, a the Bannayan syndrome, 4 and the BeckwithW i e d e m a n syndrome? It is the purpose o f this p a p e r to emphasize this association and to report the previously unrecognized occurrence of macrocephaly as a frequent component in children with K l i p p e l - T r e n a u n a y - W e b e r syndrome, the combination o f K l i p p e l - T r e n a u n a y - W e b e r syndrome and Sturge-Weber anomaly, and cutis m a r m o rata telangiectatica congenita. In addition to angiomata, most o f the patients exhibit asymmetric hypertrophy o f one or more limbs.
CASE REPORTS Characteristic features of these ten Caucasian patients are summarized in Table I, and head circumference growth data in From the Dysmorphology Unit, Department of Pediatrics, University of Washington School of Medicine, and the Department of Pediatrics, University of California School of Medicine. Supported by the Maternal and Child Health Services, Health Services and Mental Administration, Department of Health, Education & Welfare, Project 913," National Institutes of Health Grant No. HD 05961; Public Health Service Grant No. GM 15253; and The National Foundation-March of Dimes. *Reprint address: Professor in Pediatrics, RR234 Health Sciences, RD-20, University of Washington School of Medicine. Seattle,. Wash. 98195.
Fig. 1. The following is a summary of additional pertinent information relative to each of the patients. These are subdivided into three general overlapping categories, the common features of which are set forth in Table II. Klippel-Trenaunay-Webersyndrome. Patient 1. This adopted female was born of a normal gestation with a birth weight of 4 kg and head circumference at 5 weeks of age of 43 cm. There were diffuse hemangiomatous lesions on the left side of the body, right arm, and right axllla (Fig. 2) at 3 years of age. Brownish nevoid streaks were intermingled with some of the nonelevated hemangiomatous lesions. Roentgenographic evaluation revealed an enlarged but otherwise normal cranium. Generalized enlargement of the right kidney was noted by intravenous pyelography. At 6 1/2 years of age weight and height persisted at the ninetieth percentiles and there had been no progression of the asymmetry, the left leg being 1.5 cm longer than the right. She was doing well in school. Patient 2. This adopted girl was born to a 16-year-old mother and 18-year-old father. At- 6 3)4 years she was short (106.6 cm) with macrocephaly and her right leg was enlarged with multiple arteriovenous fistulas having been demonstrated by arteriogram. There was asymmetric enlargement of the third and fourth toes. Patient 3. This boy was born to a 22-year-old father and a 20year-old mother after a 37-week gestation. Birth weight was 3.0 kg, length 48 cm, and head circumference 36.5 cm. There was a large omphalocele, an extensive strawberry hemangioma from the left axilla to the distal forearm, inguinal hernias, and at 6 weeks of age pyloric stenosis was corrected. At 7 months of age, the nevus vasculosus of the left arm had substantially involuted, but the left arm remained noticeably larger circumferentially than the right arm. Skull roentgenograms
VoL 87, No. 3, pp. 353-359
354
Stephan et al.
The Journal o f Pediatrics September 1975
561
Pt. 1
/
~
~
- ~Pt.6
52 ~ / ~
Pf. I0 ..........,..,........................-...,....
,
48
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