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Table of Contents
Year : 2015  |  Volume : 31  |  Issue : 2  |  Page : 253-255

Congenital hemihyperplasia with hemipigmentation: A rare presentation

Department of Anaesthesiology, Era's Lucknow Medical College, Lucknow, Uttar Pradesh, India

Date of Web Publication16-Apr-2015

Correspondence Address:
Major Vishal Arora
Department of Anesthesiology and Critical Care, Era's Medical College, Hardoi Road, Lucknow - 226003, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0970-9185.155161

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Hemihyperplasia is a heterogenous group of disorders characterized by asymmetric limb growth. Confusion regarding their classification and ascertainment into various syndromes still exists. Subtle, asymmetric variation of the unilateral structures of the head, face, trunk or extremities may occur in the general population in the absence of any local lesion or condition.

Keywords: Hemihyperplasia, hemipigmentation, leg-length discrepancy

How to cite this article:
Arora MV, Choubey MS, Saikia M, Fotedar S. Congenital hemihyperplasia with hemipigmentation: A rare presentation. J Anaesthesiol Clin Pharmacol 2015;31:253-5

How to cite this URL:
Arora MV, Choubey MS, Saikia M, Fotedar S. Congenital hemihyperplasia with hemipigmentation: A rare presentation. J Anaesthesiol Clin Pharmacol [serial online] 2015 [cited 2020 Jun 3];31:253-5. Available from:

  Introduction Top

Asymmetry is an interesting biological error. Occasionally, a gross asymmetry easily perceptible to the eye may occur which progresses slowly but steadily and exhibits asymmetric development. [1],[2] Factors such as heredity, chromosomal abnormalities, altered intrauterine environment, endocrine dysfunctions, anatomical and functional anomalies of the vascular system and disturbances of the central nervous system can be attributed to the multisystem involvement. [1],[3]

The purpose of this report is to present the case of a child with rare fusion of congenital deformities, namely congenital hemifacial hyperplasia, intense hemipigmentation and limb hemihyperplasia with leg-length discrepancy (LLD) and to supplement existing clinical knowledge.

  Case Report Top

A 2-year-old male child was brought to our hospital by his father with complaint of a mass in right mid-axillary area for about 1-month. He weighed 12.5 kg and was 85 cm tall with head circumference of 48 cm. He was the last of two siblings without any previous family history of any congenital deformity or anomaly.

Milestones were delayed as child was not able to walk or stand without support till presentation to the hospital. The mother denied any history of consanguineous marriage, drug or radiation exposure. The mother neither had problems during pregnancy nor during delivery. Immunization was complete till date. On first look, the child had intense hemipigmentation on the left side of the trunk [Figure 1] and congenital deformity on the left side of the face and left limbs.
Figure 1: Left sided increased hemipigmentation

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The physical examination revealed a mentally healthy and active boy. The patient's face was asymmetrical with an enlargement on the left side including the maxillary and mandibular region and large forehead [Figure 2]. It was clear that there was a unilateral enhancement of development on this side. The tissue surrounding the tooth when compared with the right side was enlarged. The skin and hair appeared normal. Tongue appeared normal. Speech was not impaired. The general examination revealed asymmetrical development of the extremities and the trunk. On examination, he was found to have grade 5/5 power on the both sides. However, there was visible hypertrophy of left lower limb including calf, thigh, and foot and left upper limb. His left lower and upper limbs were longer than right limbs significantly showing evidence of LLD [Table 1] and [Figure 3]. There was no evidence of syndactyly, macrodactyly, cafι-au-lait spots, naevi, hyper extensible skin, vascular malformations. His mouth opening was adequate, and the modified Mallampati classification could not be assessed as child was uncooperative. Preoperative emergency tests revealed neutrophilic leukocytosis and hemoglobin was 8.0 g%. Viral markers were negative. Systemic examination appeared normal. Neck movements were normal, and spine was normal. High-risk consent was taken from the parents, and patient was accepted in American Society of Anesthesiologists Grade III.
Figure 2: Left facial hemihypertrophy

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Figure 3: Leg-length discrepancy with increased hemipigmentation

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Table 1: Anthropometric measurements of the child

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In view of the difficult airway, parents were informed that the technique might fail, and tracheostomy consent was taken. A trolley for difficult airway was kept ready including laryngeal mask airway and tracheostomy set. On presentation, the child was already nil by mouth for the whole night that is, 6 h. We planned to go for general anesthesia under mask without intubation as patient could not be assessed for any congenital or cardiovascular anomaly in view of the emergent nature of the surgery. The child was crying and uncooperative. Hence, we premedicated with 60 mg ketamine with 0.2 mg glycopyrrolate via intramuscular route in the preoperative area in mother's lap. On loss of consciousness, the child was carried into operation theater, and all monitors attached. He was given injection ondansetron 1.5 mg and injection fentanyl 25 μg. Subsequently, he was taken on mask ventilation and maintained with oxygen and nitrous ratio 30:70 throughout the surgery. On completion of surgery, he was maintained on 100% oxygen till awake and shifted to the postoperative ward under close observation. The postoperative course was normal. He was referred to the pediatric and dermatology department for the establishment of diagnosis, but the child's father was not ready for any evaluation. He was subsequently discharged on 3 rd postoperative day.

  Discussion Top

This child is an extremely rare case with fusion of multiple congenital anomalies, chiefly hemifacial hypertrophy, unilateral limb hyperplasia and intense unilateral hyperpigmentation of trunk.

Hemihyperplasia is a heterogenous group of disorders characterized by asymmetric limb growth. The disproportionate growth is almost always evident at birth and the enlarged side generally grows at the rate proportional to but slightly faster than the normal side. The disproportionate growth rate is maintained until the time of skeletal maturation and results in an asymmetry existing throughout life. Association of tumors is an important feature of overgrowth syndromes.

The multisystem involvement has resulted in etiological heterogeneity, and no single diagnosis can explain the etiology adequately.

Even after extensive search of literature, we could not find even a single pediatric case on internet with combined unilateral hemihypertrophy with increased limb length, increased hemipigmentation and hemifacial hypertrophy.

However, we are suggesting some near diagnosis to our case as mentioned below.

Differential diagnosis

  1. Facial hemihypertrophy or hemimacrosomia or partial/unilateral gigantism characterized by marked unilateral overdevelopment of hard and soft tissues of the face is a rare congenital malformation. This has been termed variously in the literature as, congenital hemifacial hyperplasia. [1],[2],[4] Pollock et al. emphasized the use of the term congenital hemifacial hyperplasia because it is more histologically precise. [5] Congenital hemifacial hypertrophy has been classified by Rowe to involve: [6]

    • The entire half of the body: Complex hemihypertrophy.
    • One or both limbs: Simple hemihypertrophy.
    • The face, head, and associated structures: Hemifacial hypertrophy.
  2. Klippel-Trenaunay- Weber syndrome More Details is characterized by classic triad of cutaneous hemangiomata (port wine stain), hemihyperplasia and varicosities.
  3. Von Recklinghausen's neurofibromatosis affects the skin and peripheral nervous system. Some signs of this disorder include tan spots (café-au-lait macules) and freckles under the arms or in the groin area.
  4. Proteus syndrome, also known as Wiedemann syndrome (named after the German paediatrician Hans-Rudolf Wiedemann), is a congenital disorder [7] that causes skin overgrowth and atypical bone development (macrodactly), often accompanied by tumors over half the body. [8] Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. Proteus syndrome often results in overgrowth of one side of the body and not the other.
Diagnosis of such syndromes may be of help in genetic counseling. However, the literature suggests that isolated hemihyperplasia, Proteus syndrome, Beckwith Weidman syndrome are generally sporadic, and there is no risk of recurrence in the siblings of the affected case.

The question remains, is this new syndrome unaddressed so far or is it a syndrome (congenital hemifacial hyperplasia) which presented in conjunction with intense hemipigmentation? This query still needs to be worked out.

  References Top

Nayak R, Baliga MS. Crossed hemifacial hyperplasia: A diagnostic dilemma. J Indian Soc Pedod Prev Dent 2007;25:39-42.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
Islam MN, Bhattacharyya I, Ojha J, Bober K, Cohen DM, Green JG. Comparison between true and partial hemifacial hypertrophy. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007;104:501-9.  Back to cited text no. 2
Horswell BB, Holmes AD, Barnett JS, Hookey SR. Primary hemihypertrophy of the face: Review and report of two cases. J Oral Maxillofac Surg 1987;45:217-22.  Back to cited text no. 3
Khanna JN, Andrade NN. Hemifacial hypertrophy. Report of two cases. Int J Oral Maxillofac Surg 1989;18:294-7.  Back to cited text no. 4
Pollock RA, Newman MH, Burdi AR, Condit DP. Congenital hemifacial hyperplasia: An embryologic hypothesis and case report. Cleft Palate J 1985;22:173-84.  Back to cited text no. 5
Rowe NH. Hemifacial hypertrophy. Review of the literature and addition of four cases. Oral Surg Oral Med Oral Pathol 1962;15:572-87.  Back to cited text no. 6
William DJ, Timothy GB, Dirk ME. Andrews' Diseases of the Skin: Clinical Dermatology. Saunders; 2005.  Back to cited text no. 7
Freedberg IM, Goldsmith LA, Katz S, Austen KF, Wolff K. Fitzpatrick's Dermatology in General Medicine. New York: McGraw-Hill; 2003.  Back to cited text no. 8


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1]


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