INTRODUCTION:

Hypomelanosis of Ito was described by Ito in 1952. HOI is otherwise spelt as Incontinent Pigmentiachromians is a rare neurocutaneous syndrome⁸. It is not an isolated entity but a clinical syndrome which has multisystem involvement commonly manifested involving the neurological and musculoskeletal system. This characterizes HOI as a neurocutaneous birth defect⁷. The characteristic skin lesions are hypopigmented which may be streaked, whorled or mottled found on the limbs or trunk which is evident since infancy. These lesions follow the lines of Blaschko, which were first described in 1901 by the German Dermatologist Alfred Blaschko⁵.

Figure 1: Lines of Balaschko

Epidemiology:

Globally, the incidence and the prevalence of HOI accounts to 1 in 7540 and 1 in 8200 births in different studies². The disease is mostly “Sporadic” in nature which denotes sudden mutation in the chromosome and may not have a further chance of recurrence later down the generations. But around 3% of the affected cases suggests of a possible familial inheritance⁹.The hypopigmented lesions generally starts appearing by the first two years of age but, becomes less prominent with age⁶.

Clinical Manifestations:

HOI is It is not a specific disorder but has diffuse physical findings directing towards chromosomal or genetic mosaicism where the victim has some cells with normal chromosomes and some cells with the chromosomal abnormality in it. This, gives the “checkboard appearance” in the body with areas of hyperpigmentation and areas of hypopigmentation too¹. These hypopigmented patches correspond to the Blaschko lines^3,11. The lines of Blaschko corresponds to the pathways of epidermal cell migration and proliferation during the embryonic development of the foetus. They are V shaped on theupper spine, S shaped on the abdomen and inverted U shape from the breast area to the upper arm and perpendicular down to the front and back of the lower extremities⁵.

Figure 2: Hypopigmented skin lesions

Along with the hypopigmented lesions there may be associated symptoms which are as follows;

Associated anomalies^6,10:

CNS- varied levels of mental retardation (67%)

Craniofacial- Macrocephaly, carse facies, hypertelorism, epicanthal folds, thick lips, cleft lip, cleft palate, malformed auricles, retinal pigmentation, clouding of lens.

Hair and face- diffuse alopecia, dysplasia of the teeth, irregularly spaced teeth, increased volume of the lower lip, increased or decreased size of skull.

Limbs- clinodactyly, syndactyly, polydactyly

Skeletal- lordosis, short stature.

The commonest among them are developmental delay, mental retardation of various degrees, poor school performance, autistic behaviour, infantile spasm and seizures. Approximately, 70% of the affected children have associated anomalies while 30-50% of the cases have mental sub-normality.

Investigations:

The investigations done are mostly symptom based. If only neurological symptoms are manifested, MRI and Electroencephalography are the BEST diagnostic tests. Others include Wood’s lamp examination to assess the lesions to confirm the diagnosis.

Management:

A multidisciplinary group of health care providers will be essential while treating a child with HOI. This includes a paediatrician, ophthalmologist, neurologist, orthopaedician, physiotherapist and others as needed. The overall prognosis of the child depends on the severity of the associated anomalies.

Case report:

Master X, a 4 year old boy was evaluated in our secondary level hospital with the history of fever and cough since 2 days and had 2 episodes of convulsions since 1 day. On admission, the seizure was managed initially with Inj. Lorazepam followed by maintenance dose of Tab. Friscium 5mg bd. This was his first episode of febrile seizures. His vital signs recorded a body temperature of 99⁰F, Pulse rate 110/mt, Respiration rate of 30/mt.

As per his mother, her pregnancy and the puerperal period were uneventful. The child had normal neonatal period and had normal growth pattern. His gross and fine motor milestones were achieved on time but his development delayed in his cognitive and language ability skills. At the mere age of 4, he was only able to say “ma” and make some noises.

On assessment, he was found to have dysmorphic features in the form of high prominent forehead, low set posteriorly ears, depressed nasal bridge, epicanthal folds, hypertelorism, tooth spacing with abnormal shape and size and mild scoliosis. He had hypopigmented areas evident on his back from the midline to the lumbar region along the lines of Blaschko which were first identified when he was 6 months old. He had no previous history of trauma or any family history of any dermatological related disorders. He was diagnosed with HOI at the age of 2 years after the evaluation of the skin lesions on his back. He had episodes of shrill cry and a characteristic stereotyping of babbling some bizarre sounds. His laboratory findings revealed presence of active infection with C-reactive protein of 4.2mg/dL and slight hyponatremia (133meq/dl). His Echo revealed normal findings. His abnormal dentition, macrocephaly and flat occiput were similar to the diagnosis of clients with HOI. He was also diagnosed to have Sickle cell trait and started on tablet folic acid. He was referred for audiometry tests to ensure his ocular functional ability. During his hospiltalization, he did not have seizures and had one episode of fever on the first day of hospital stay. On 4th day of his hospitalization, he was discharged. On discharge, his vital signs were stable and he was seizure free. His cognitive impairment remained the same. He needed support to sit, stand and walk. Parents were taught to care for this child at home and emphasized on regular medication and follow up.

Management of Master X:

The management was mostly symptom based. He was immediately started on anticonvulsants after his admission to prevent further episodes of seizures. He had slight hyponatremia for which he was administered Oral Rehydration Solution (ORS) to combat electrolyte imbalances. His vital signs were monitored ever q4hourly. He was started on syrup Augmentin 100mg bd and syrup Sinerest 5 mL TID for 5 days to combat infection and prevent further complications. During his hospitalization he had one episode of fever (Temp- 100.6⁰ F) which was managed by cold application and adminstered syrup Paracetamol 125mg for the same.

Nursing management of Master X

Having a child with HOI which involves the neurological and the musculoskeletal disorders it is quite distressing for the parents. On a nursing perspective, the parents need to have extensive counselling sessions. They need to be explained about the disease condition and the significance of tender loving care to such special children. These are the major aspects on which the emphasis was given.

a) Physical mobility:

Due to neuromuscular impairment, these children may have motor ability impairment. So, regular and intensive range of motion excercises needs to be done lifelong in order to maintain muscle mass and muscle strength. This requires lot of patience and endurance on behalf of the family. Lack of family support and motivation can lead to physical deficits and deformities. Motivated the family regarding the importance of limb exercises on a long term basis and involved the family in performing the exercises. During the hospitalization, child was encouraged to build a tower with blocks which aided in enhancing his motor and cognitive abilities.

b) Nutrition:

These children should be given emphasis on optimum nutrition especially high biological protein content will help in preventing muscle wasting and nerve degeneration. The parents were taught about the significance of proteins, carbohydrates and fat and the available sources. Emphasised also on fibre rich diet to prevent complications like constipation. The parents were discussed regarding proper positioning of the child while feeding so as to prevent the risks of aspiration. The mother was suggested to ensure her child’s head is well propped up during feeding. It was discussed that a pillow or leaning the child against the wall will help in proper posture maintenance. She was quite receptive to the suggestions given.

c) Play Therapy:

Play therapy has been identified as an effective and appropriate tool to help the children in the progress of their developmental problems. It is through play that children are confident, able to express themselves more freely which allows them to have a better control over themselves⁴. The mother, being the primary care giver was advised to engage the child in small play activities such as use of building blocks , light and sound toys which altogether will help in improving his cognitive abilities. They were told about the significance of play therapy in the resolution of development issues and enhancement of the holistic well being of the child.

d) Management of deficits:

Being a neurocutaneous disorder, neurodevelopmental delay being obvious in this child with the manifestation of cognitive, speech delay, he required extensive assessment of the sensory deficits. Nurses being the frontline caregivers to Master X, along with the Behavioural, physio and occupational therapists help in the upbringing of the child to make him independent enough to survive in this society. Some of the following aspects which were addressed as follows:-

1. Falls and Injury:

The parents were advised to avoid the child unattended. They were told to keep pillows or rolled bedsheets along the sides of the bed , when left alone to avoid the risk of falls and injury.

2. Self care needs:

A child well kempt and groomed is very vital in enhancing the self esteem and acceptance of the child. The parents were discussed about maintaining good oral hygiene, bathing, toileting and grooming skills which will facillitate a good well- being in the child. Cues about indicating toileting needs was illustrated to the mother. These were specifically designed based on what the child was able to verbalize and apprehend. Moreover, the parents were encouraged to follow a particular specific sequence of meeting his hygiene needs on an everyday basis. This will imbibe discipline as well as a conditioned reflex in the mindset of the child; at the successful accomplishment of which can be rewarded by a chochlate / toy.

3. Sensory stimulation:

It was discussed with the mother to show him solid colours from within the household items. e.g- tomato for red colour to emphasize the visual stimuli. She was illustrated and encouraged to sing simple rhymes for auditory stimulation which will help in the sensory development of the child. They were advised to incorporate play therapy with the use of various sensorimotor stimulatory toys for the same for a better prognosis.

Communication:

Interpersonal communication to the child on a regular basis will lead to development of better social skills, upliftment of his cognition and foster optimal development of the child. The child's parents were encouraged to talk to the child face to face, maintaining good eye contact rendering love and affection to the child. The process of progress will be undoubtedly slow, but the parents were counselled to continue the needful.

e) Counselling:

Nurses conducted regularly counselling sessions and allowed his parents to ventilate their feelings and made them feel better. Acted as a liaison between the family and the physician and clarified their queries regarding the symptoms and management of the child at home. As the treatment is a long-term process, this accounts for the financial backup of the family and a lot of patience as the progress is very slow. They were suggested to go for audiometry tests to the nearby Government hospital so as to combat the financial burden. A referral letter was also issued for the same. Directed the parents to Government funds and NGOs for financial support for further treatment. Counselling for parents in regard to his school education was scheduled after one year.

Prognosis

The NOT so significant symptoms of HOI makes delay in the diagnosis among children. Hence, the prognosis seems to be poor. But evidence-based studies reveal, if the symptoms are only dermatological, prognosis is good.

CONCLUSION:

HOI is not an isolated entity but a clinical syndrome encompassing multiple cutaneous and central nervous system symptoms. This disease being rare, makes it quite challenging to be diagnosed early and this affects the prognosis. The quality of life of children with HOI can be improved by educating the parents on holistic care of children at home, symptomatic treatment of the deficits and regular follow up.

REFERENCES:-

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10. https://dermnetnz.org/topics/hypomelanosis-of-ito/

11. https://emedicine.medscape.com/article/1068339-overview

Received on 12.09.2020 Modified on 30.09.2020

Asian J. Nursing Education and Research. 2021; 11(2):285-288.

DOI: 10.5958/2349-2996.2021.00068.9