Asymmetry of Limbs and Hypertrophy of Some Parts of the Body - Essay Example

CASE PRESENTATION OF CUTIS MARMORATA TELANGIECTASIA CONGENITA Cutis marmorata telangiectasia congenita is a rare but distinct clinical condition mainly related to the skin. The skin appears reticulated and blue-violet in color and is mostly seen at birth. In most situations it presents with only skin findings. However, in some conditions, it is associated with other clinical findings making the diagnosis, evaluation and management challenging. In most cases the skin lesions lighten by two years of age. In some however, the lesions persist lifelong and may be associated with asymmetry of the body (Picasia, & Esterly, 1989, pp.1099). In this case presentation, I am reporting a case of Cutis marmorata telangiectasia congenita in a 9 year old girl with asymmetry who presented to dental department with defective dentition. The case report is followed by discussion on the topic. Introduction Cutis marmorata telangiectasia congenita is one of the rare disorders of the skin that manifests at birth. The main clinical presentation is reticulated lesions of the skin that are blue-violet in color. The course of the disease varies and can last from few years to life long. Depending on the extent and intensity of lesions, complications like asymmetrical growth and ulcerations can occur (Clayton-Smith, 1997, pp.301). Some cases may be associated with other clinical findings like macrocephaly, high arched palate and patent ductus arteriosus and hence every patient with this condition must be evaluated for presence of other defects. The exact etiology is unknown and there is no definitive treatment as yet. In this article, we intent to report a case of cutis marmorata telangiectasia congenital presenting in late childhood with dental and cosmetic problems. Case Report A 9 year old Jade presented to the dental department with protrusion of her upper dentition and to the joint orthognathic clinic with concerns related to her nose in profile. Jade felt her top jaw was too far forward and she did not like the appearance of her teeth. Past medical history was significant and revealed treatment for hypoplasia of right side of the body. The treatment was given from the age of six months to the age of four. Apparently Jade was born with Cutis marmorata telangiectatica congenital (Garzon, & Schweiger, 2004, pp.101-104). Her antenatal and birth history are unremarkable except that she had significant mottling at birth, mainly on the right side of the body. Head circumference was normal and she had no other skin lesions. Development, hearing, vision and intellectual abilities were within normal limits. On clinical examination at the dental clinic, Jade had significant facial asymmetry, left side being larger than the right. Mild macrocephaly was noted. She had obvious cutis marmorata on the left hand and forearm; lesions on the right side were not noted. Another important finding was asymmetry of the upper limbs with right limb being smaller than the left (Clayton-Smith, 1997, pp.297). Dental radiography revealed Class II division I incisor relationship on a severe skeletal II base with increased vertical dimensions along with mandibular and generalized pan facial asymmetry to the right, a V shaped maxillary arch and a severely crowded lower arch. The lower labial segment however, appeared to be fairly upright and there was an element of retroclination. The overjet was increased to 11mm. Radiographical examination including an OPT confirmed the clinical findings and the presence of carious teeth. Vertebral anomalies were ruled out. Plan in this patient was to extract second premolars on either side in the lower arch followed by upper and lower fixed appliances to expand and control the overjet and to allow some forward movement of the lower labial segment, and then a bimaxillary procedure involving a posterior maxillary impaction accepting the degree if VME due to the short upper lip followed by a BSSO advancement. This would then be followed by a secondary surgical procedure such as a rhinoplasty to improve the appearance of the nose (Bormann & Fischer, 2001, pp,110-2). The patient has subsequently undertaken upper and lower fixed appliances for orthodontic treatment and is now awaiting a bimaxillary osteotomy to change her skeletal relationship and remains under close observation. Discussion Cutis marmorata telangiectatica congenita is a condition in which the vascular network of the skin is reticulated and appears blue-violet in color. It is either localized or generalized and mostly appears at birth. The distribution is segmental and there is definite sharp demarcation of the lesions at midline (Halal, & Silver, 1989, pp.184). The reticulata are sometimes associated with telangiectases. The red-purple hue of these lesions are exaggerated when the baby is crying, feeding, moving vigorously o when exposed to cold temperature. However, the marble appearance of the skin is evident even when the baby is at rest and warm. The lesions typically do not blanch even when firm pressure is applied on palpation, except for some which may (Torello, & Happle, 2003, pp. 345-7). In most patients, the lesions fade over time. In some however, they may last throughout life. The exact etiology and pathogenesis of cutis marmorata telangiectasia is yet unknown and in most instances, it appears to be sporadic. Some researchers have proposed autosomal dominant inheritance with low penetrance. Some others have proposed multifactorial pathogenesis (Cristaldi, 1995, pp. 137). The diagnosis is made on clinical examination. There are no laboratory tests to diagnose this condition. Histopathologic examination on biopsy specimens are non-specific, vary widely and nondiagnostic (Halal, & Silver, 1989, pp.184-5). Some findings include dilatation of veins, capillaries, and venous lakes in all layers of not only the dermis but also the subcutaneous tissue, swelling of endothelial cells, atypical endothelial cells, lymphocytic infiltration in the perivascular region within the dermis, decreased perithelial number and interrupted basal lamina. Doppler may be useful in some cases (Picasia, & Esterly, 1989, pp.1100-1). Some researchers have reported atrophy of the dermis and subcutaneous tissue in the region of reticular bands (Torello, & Happle, 2003, pp. 345-7). Complications in this condition are not much. Some of the complications which have been reported include atrophy of the skin, ulceration, infection of the ulcer and rarely skin hypertrophy. Rarely, cutis marmorata telangiectasia can be associated with other congenital defects like macrocephaly, extensive mongolian spots, patent ductus arteriosus, Sturge weber syndrome, high arched palate, arrhythmias and capillary hemangioma (Yano & Watanabe, 2001, pp.150). Picasia and Esterly (1989, pp.221) reported 22 patients with congenital cutis marmorata telangientasia in which only 27 percent cases had other anomalies. Smith et al (1997, pp.45) reported four cases of cutis marmorata associated with macrocephaly, syndactyly and hemangioma and together, they care known as distinctive overgrowth syndrome. Similar reports were presented by Clayton-Smith et al (1997, pp.311) and Moore et al (1997, pp.67-9) reported 13 patients with a distinct combination of various anomalies with cutis marmorata telangiectatica congenita. The anomalies include abnormal patterns of physical growth, various skeletal and craniofacial defects, malformations of the central nervous system and disorders of connective tissue and vasculature. In one case with cutis marmorata telangiectatica congenita and macrocephaly, Carcao et al (1998, pp.145) reported "CNS dysgenesis with protrusion of cerebellar tonsils through firamen magnum, lumbar synrix, and hydrops of the optic nerves" (Carcao, et al., 1998, pp.167). It is still a controversy as to whether macrocephaly with hemangioma and syndactyly comes under overgrowth syndrome. It is very important to differentiate this condition from other similar conditions like Bockenheimer syndrome which has progressive variosity of veins and certain portwine disorders which have reticulated pattern (Moffitt, Kennedy, & Newbury-Ecob, 1999, pp.235-6). The patients need detailed physical examination including length and girth measurement of the limb and ophthalmologic evaluation. The reticuloid lesions may not need any treatment initially. However, if they become ulcerated, local treatment with antibiotics and hydrocolloid dressings may be done. Persistent lesions may be treated with pulsed dye laser, but the response to treatment is variable. In majority patients, the lesions lighten with age, especially within the first 2 years of life. Limb asymmetry may remain throughout life (Moore, et al, 1997, pp.67). Corrective surgeries may be needed as the infant grows into childhood and adulthood. The surgeries may be necessary either for cosmetic reasons or to perform day-to-day activities with ease as in case of Jade. Conclusion Cutis marmorata telangiectasia congenita can be associated with other malformations which need to be evaluated whenever a child with this condition is there. In addition, as age progresses, in some the lesions persist and other complications ensure like atrophy of kin, asymmetry of limbs and hypertrophy of some parts of the body (Halal & Silver, 1989, pp.181). Surgical intervention may be necessary in such patients. List of References Bormann, G., Wohlrab, J., Fischer, M., et al. (2001). Cutis marmo-rata telangiectatica congenital: laser Doppler fluxmetry evi-dence for a functional nervous defect. Pediatr Dermatol, 18, 110-113. Carcao, M., Blaser, S.I., Grant, R.M., et al. (1998). American Journal of Medical Genetics, 76, 165- 167. Clayton-Smith J., Kerr, B, Brunner, H. et al. (1997). Macrocephaly with cutis marmorata, hemagioma and syndactyly- a distinctive overgrowth syndrome. Clinical dysmorphology, 6, 291- 302. Cristaldi, A., Vigevano, F., Antoniazzi, G., et al. (1995). Hemimegalencephaly, hemihypertrophy and vascular lesions. European Journal of Pediatrics, 154, 134- 137. Garzon, M.C., and Schweiger, E. (2004). Cutis Marmorata Telangiectatica Congenita. Seminars in Cutaneous Medicine and Surgery, 23, (2), 99-106. Halal, F., and Silver, K. (1989). Slowly progressive macrocephaly with hamartomas: A new syndrome? Am J Med genetics, 33, 182- 185. Moffitt, D.L., Kennedy, C.T.C, Newbury-Ecob, R. (1999). The syndrome page. Pediatric dermatology, 16(3), 235- 237. Moore, C.A., Toriello, H.V., Abuelo, D.N., et al. (1997). Macrocephaly-Cutis marmorata Telangiectatica Congenita: A distinct disorder with developmental delay and connective tissue abnormalities. American Journal of medical genetics, 70, 67- 73. Picasia, D.D., and Esterly, N.B. (1989). Cutis marmorata telangiectatica congenita: Report of 22 cases. Journal of the American Academy of Dermatology, 20 (6), 1099- 1104. Smith, J.C., Kerr, B., Brunner, H., et al. (1997). Macrocephaly with cutis marmorata, hemangioma and syndactyly- a distinctive overgrowth syndrome. Torello, A., Zambrano, A., Happle, R. (2003). Cutis marmorata telangiectatica congenita and extensive mongolian spots: Type 5 phacomatosis pigmentovascularis. Br J Dermatol., 148, 342-345. Yano, S., Watanabe, Y. (2001). Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiec-tatica congenita syndrome. Am J Med Genetic, 102, 149-152. Read More