The parents of an otherwise healthy 5-month-old boy are concerned about the head shape of their child. The right occipital region was flat at birth and was attributed to the birthing process or intrauterine position. Since that time, they have been trying to reposition the child and keep him off the flat side with variable success. They note that he appears to have full and age-appropriate head control, normal head posture, and is otherwise growing and developing normally.
On exam, the right occiput is flat, and the right ear appears to be lower in position than the left. There is a small bulge of the left mastoid region, and the right forehead is slightly flattened as well. The orbits, midface, and mandible appear normal. Examination of the neck shows full range of motion, although slight tightening of the right sternocleidomastoid muscle is present. The head circumference is at the 50th percentile.
Discussion: The diagnosis is true lambdoid craniosynostosis of the right lambdoid suture.
True lambdoid synostosis is the rarest form of nonsyndromic single-suture synostosis. It occurs in 2% to 3% of patients with nonsyndromic disease. The more common synostoses involve the sagittal, coronal and metopic sutures, in decreasing order of incidence.
Simple suture synostosis is related to a number of variables including fetal head constraint, dural signaling pathways, twinning, and, perhaps, prenatal medications. The classic presentation of lambdoid synostosis shows ipsilateral flattening of the involved occipital parietal region. Due to this restriction in the posterior occiput, there is compensatory expansion so that very often the contralateral forehead and occiput may be enlarged. Ear position is variable but is most commonly described as being either inferior or posterior on the involved side. When viewed posteriorly, the most classic finding is a mastoid bulge on the ipsilateral side. Again, this is a compensatory change due to restriction of growth on the affected side. There is great controversy as to what may occur anteriorly. In the classic description, the ipsilateral forehead is retruded, locked into the position by the fused suture. Orbits, midface, and mandible are not involved.
The most difficult dilemma for clinicians is the differentiation of true lambdoid synostosis from the more commonly seen deformational plagiocephaly. Deformational plagiocephaly is thought to be due to intrauterine constraint, birthing position, or back sleeping. Both types of head flattening can result in anterior changes. In deformational plagiocephaly, the forehead on the ipsilateral side is frequently expanded, as is the contralateral occiput as these are compensatory changes. The contralateral forehead is frequently relatively retruded. Typically the ear is more anteriorly positioned, not inferiorly or posteriorly. Importantly, no compensatory mastoid bulge is seen in deformational plagiocephaly.
Treatment varies tremendously. Patients with true lambdoid synostosis require release of sutures and expansion of the vault. Release can be done endoscopically or as an open procedure. The occipital region is expanded and the cranial base on the affected side is released and expanded as well. Surgery typically involves placement of small, reabsorbable plates and screws to hold the expanded segments in position, and often the involved side of the cranium is switched for the uninvolved side to overcorrect as much as possible and give a more normal shape. Long-term studies show that this form of therapy has lasting benefit with little tendency to relapse.
Treatment of deformational plagiocephaly is entirely different and nonsurgical. Most recent studies show that in moderate to severe cases helmet therapy accomplishes more in reshaping the head than does simple repositioning. Helmets basically serve to keep the child off the affected, flattened side, and provide room for brain and skull growth. Most people feel the sooner helmet therapy is started the better, and certainly, by age 4, 5, or 6 months. By initiating therapy at this time, therapy is typically shorter and produces a better result.
There is no evidence to suggest deformational plagiocephaly causes developmental abnormalities. However, in studies from Oxford and Paris, children with single suture synostosis may have a 10% to 15% risk of elevated intracranial pressure if the malformation is not treated surgically.
Smart J, Reid R, Singh D, Bartlett S. True lambdoid craniosynostosis:long-term results of surgical and conservative therapy. Plast Reconst Surg. 2007;15;120(4):993-1003.
Seruya M, Oh A, Taylor J, Saurhammer T. Rogers G. Helmet treatment of deformational plagiocephaly: the relationship between age at initiation and rate of correction. Plast Reconst Surg. (In press)
Selber J, Reid R, Chike-Obi C, Sutton L, Zackai E, McDonald-McGinn D, Sonnad S, Whitaker L, Bartlett S. The changing epidemiologic sprectrum of single suture synostosis. Plast Reconst Surg. 2008;122:527-533.
Huang M, Gruss J. Clarren S. The differential diagnosis of posterior plagiocephaly: true lambdoid synostosis versus positional molding. Plast Reconst Surg. 1996;98:765-770.
A 5-year-old female comes to the office with her parents who are concerned about asymmetry of her chest wall. On examination, she has no anterior axillary fold and no detectable pectoralis major muscle on the left side, and the nipple and areola are smaller and elevated on that side (See Figure 2a.). In addition, the left upper extremity and fingers are shortened and hypoplastic. (See Figure 2b.)
Discussion: The diagnosis is Poland’s syndrome. Poland’s syndrome is a congenital form of chest wall and breast hypoplasia associated with ipsilateral upper extremity anomalies (See Illustration 1). Clinical features vary in extent and severity.Illustration 1. Examples of Poland’s syndrome common anomalies. Common to all presentations is the absence of the sternocostal head of the pectoralis major muscle. This can be detected on physical examination by absence of the anterior axillary fold, and is best appreciated when the patient rests a hand on the hip. Other chest wall muscles can be deficient or absent, including the pectoralis minor, latissimus, serratus anterior, and external oblique muscles.
Breast involvement varies from mild hypoplasia to complete amastia. The nipple and areola are usually hypoplastic, lightly pigmented, and displaced superiorly and laterally on the chest wall, and they may even be absent. Other features include deformity or aplasia of the costal cartilages or ribs II and V, deficiency of the subcutaneous tissues, and alopecia of the axillary and mammary regions.
The classic hand anomaly is a simple symbrachydactyly of the index and middle fingers (shortness of the digits with cutaneous webbing), although a variety of upper extremity abnormalities have been described, including ectrodactyly (deficiency or absence of one or more fingers). Poland’s syndrome has been associated with a number of other syndromes and conditions including Mobius, Klippel-Feil, renal anomalies, dextrocardia, and a variety of cancers; there have been 15 reported cases of breast cancer within the ipsilateral hypoplastic breast.
Alfred Poland, a student-demonstrator in anatomy, described this constellation of findings in 1841. The reported incidence ranges from 1 in 10,000 to 30,000 live births. Males are affected 2 to 3 times more frequently than females, although females are more likely to present for treatment. It is a sporadic disorder, although familial cases (<1%) have been reported. The right side is affected 60% to 75% of the time; however, in familial cases, both sides are affected equally. The prevailing theory postulates interruption of the embryonic blood supply at approximately 6 weeks of gestation causing hypoplasia of the subclavian artery or one of its branches.
Surgical intervention is indicated for functional chest wall abnormalities, reconstruction of the male and female breast, and functional hand anomalies. Autogenous rib grafts, prosthetic reconstructions, and muscle flaps may be used to stabilize the chest wall when significant defects result in paradoxical movements, decreased pulmonary function, or lack of protection over the heart and lung.
Typically, patients do not complain of functional problems related to pectoralis muscle absence alone. However, the chest wall appearance can be particularly distressing for both female and male patients. Unilateral breast hypoplasia can cause significant psychosocial distress in adolescent females, and they often seek plastic surgery consultation after puberty to discuss reconstructive options. In male patients, the lack of a pectoralis muscle can result in a significant asymmetry of the chest wall and an evident cosmetic defect on the affected side. Some male patients will attempt to correct or mask the area of deficiency by lifting weights; this, however, tends to exacerbate the asymmetry. Psychosocial evaluation and therapy may be beneficial for some patients.
In female patients, depending on the degree of muscle and breast hypoplasia, reconstruction can be performed with implants alone or in conjunction with local muscle flaps. The latissimus muscle is the preferred muscle flap as it can be rotated from the back and positioned to cover the implant, augment the superior chest wall soft tissue deficiency, and also recreate the anterior axillary fold. The presence of the latissimus muscle should be confirmed in advance, given its potential for involvement. Reconstruction can be initiated during early teenage years after breast development has begun on the normal side with placement of a breast tissue expander. This can be filled sequentially in the office to keep pace with the enlarging normal breast, and finally exchanged for a permanent prosthesis after breast development is complete. Early reconstruction can reduce the psychosocial burden for these patients as they navigate through adolescence. In male patients, reconstruction can be performed with a latissimus muscle or with a custom silicone pectoral implant.
Fokin A, Robicsek F. Poland’s syndrome revisited. Ann Thoracic Surg. 2002;74:2218-2225.
Moir CR, Johnson, CH. Poland’s Syndrome. Seminars in Pediatric Surgery. 2008;17:161-166.
Van Aalst JA, Sadove AM. Treatment of pediatric breast problems. Clinics in Plastic Surgery. 2005;32:65-78.
Van Aalst JA, Philips JD, Sadove AM. Pediatric chest wall and breast deformities. Plastic and Reconstructive Surgery. 2009;124,1S:38e-49e.
Al-Qattan MM. Classification of hand anomalies in Poland’s syndrome. British Journal Plastic Surgery. 2001;54:132-136.
Urschel HC. Poland’s syndrome. Chest Surgery Clinics of North America. 2000;10:2:393-398.
A lymphatic malformation of the head and neck region was diagnosed by prenatal ultrasound in a 5-month-old female fetus. She had no airway issues at birth and was followed conservatively by Otolaryngology. At 8 months of age, she had multiple palpable masses in the neck, and an MRI confirmed the presence of a large multicystic lymphatic malformation extending from the left parotid gland to the base of the tongue and along the left neck involving the carotid sheath. She underwent 3 sessions of doxycycline sclerotherapy at 12, 13, and 17 months of age, each consisting of several consecutive days of catheter injection and drainage of the larger macrocysts and direct injection of multiple smaller cysts. Her third sclerotherapy session was complicated by a left Horner’s syndrome which was treated, eventually requiring a ptosis repair.
She underwent a 4th sclerotherapy session at almost 3 years of age. The residual solid component of the malformation underwent surgical debulking about 9 months later, resulting in significant contour improvement but also weakness of the left lower lip, which slowly improved over the next year. Now 5, she has a small residual cyst behind her ear and some soft tissue fullness in her neck. (See Figure 3.)
Discussion: Lymphatic malformations of the head and neck (previously called cystic hygromas and lymphangiomas) are among the most challenging congenital vascular malformations to treat. Nonhereditary in nature, they represent a chance failure of formation of proper lymphatic channels, resulting in macroscopic and microscopic lymphatic cysts. They may also occur in combination with abnormal veins, resulting in venolymphatic malformations that fluctuate in size due to intravascular bleeding or lymph accumulation. Typically these malformations are infiltrative and extend microscopically into and around critical structures, making complete removal impossible. In addition to soft tissue hypertrophy, there can be associated skeletal overgrowth, resulting in facial distortion, asymmetry, and malocclusion. Episodes of cellulitis can be stimulated by upper respiratory infections or transient bacteremia associated with dental manipulation. Most seriously, lymphatic malformations of the cervicofacial region can cause life-threatening airway obstruction and mandate tracheostomy for airway management.
Lymphatic malformations are not proliferative. Unlike hemangiomas, the dilated lymphatic channels do not undergo hyperplasia, nor do they undergo spontaneous regression. Therefore treatments designed to suppress angiogenesis, such as steroids or beta-blockers or chemotherapeutic agents, are not effective. Any spontaneous improvement is presumably due to shrinkage of the cysts associated with internal drainage and/or sclerosis after repeated episodes of infection and inflammation. More commonly, lymphatic malformations tend to slowly enlarge in childhood, and adolescence may accelerate hypertrophy. Lymphatic malformations in infants can be confused with subcutaneous hemangiomas and venous malformations. An ultrasound will usually demonstrate fluid-filled cysts without flow, but an MRI scan is the most useful diagnostic test. (See Figure 4.) Figure 4. MRI Scan: The macrocystic nature of the malformation is evident, and the high water content within the cysts is highlighted on the T2-weighted scan.Because of their high water content, lymphatic malformations are hyperintense on T2-weighted sequences, and because of their low flow, they do not enhance with gadolinium injection, in contrast to venous malformations.
The treatment of lymphatic malformations depends upon their severity and location. Those that compromise the airway may require intubation and tracheostomy. The treatment of lymphatic malformations has evolved significantly with the availability of interventional radiology. In the past, these malformations underwent challenging and painstaking surgical debulking with a high risk of facial nerve injury. Now, the first-line approach is to consider sclerotherapy, using ultrasound guidance and fluoroscopic confirmation. Currently at CHOP, the antibiotic doxycycline is most commonly used, whereas alcohol is less favored because of its toxicity and increased risk of local tissue and nerve damage. There are favorable results reported with bleomycin and a streptococcal protein (OK432). It is important to counsel patients and families that there is no cure. Macrocystic malformations respond best to sclerotherapy and catheter drainage, whereas microcystic malformation may not permit effective distribution of the sclerosant. Residual microcystic involvement can lead to recurrent hypertrophy and cysts. Surgical debulking may be complicated by nerve injury, postoperative edema that fails to resolve satisfactorily, and unfulfilled expectations, in addition to the inevitable surgical scar. Patients may require a lifetime of monitoring, antibiotics for episodes of cellulitis, and periodic sclerotherapy. Multiple surgeries are not usually indicated as each procedure increases the risk of nerve injury.
Greene AK, Perlyn CA, Alomari AI. Management of lymphatic malformations. Clin Plast Surg. 2011;39(1):75-82.
Hassanein AH, Mulliken JB, Fishman SJ, Quatrano NA, Zurakowski D, Greene AK. Lymphatic malformation: risk of progression during childhood and adolescence. J Craniofac Surg. 2012;23(1):149-152.
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