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September/October 2002 JOGNN 521

CASE REPORTS

Against All Odds: Breastfeeding a Baby With Harlequin IchthyosisPatricia Ripmeester, RN, BScN, IBCLC, Sandra Dunn, RN, BNSc, MEd, IBCLC

Harlequin ichthyosis, a congenital skin condi-tion, poses challenges to nursing care, which includepreventing infection, feeding, and enhancing attach-ment. Although breastfeeding is recognized as thebest form of nutrition for infants, it may not be con-sidered as part of a treatment plan for infants withcomplex needs. This article explores the experiencesof one mother and her newborn with harlequinichthyosis, and how they taught us to remember thatthere are unlimited possibilities for care. JOGNN, 31,521–525; 2002. DOI: 10.1177/088421702237732

Keywords: Breastfeeding—Breastfeeding sup-port—Harlequin ichthyosis—Latch—Skin disorders

Accepted: December 2001

Harlequin ichthyosis, also known as lamellarichthyosis, is a congenital skin condition that posesa number of challenges to nursing care, whichinclude preventing infection, feeding, and assistingwith parent-child attachment. Although breastfeed-ing is recognized as the best form of nutrition forinfants, when faced with these infants’ complexneeds, nurses may not always be prepared to includebreastfeedisng as part of a treatment plan. This arti-cle explores the experiences of one mother and hernewborn with harlequin ichthyosis and how theytaught us to remember that there are unlimited pos-sibilities for care.

In the condition harlequin ichthyosis, layers ofskin proliferate at a rapid rate, creating thick plates,which then crack and slough off. This prevents nor-mal suppleness, and the outer layers of skin arealmost like an armor, preventing full movement. Theclinical features of harlequin ichthyosis include a

thick membranous skin that becomes brown, gray,or yellow; deep bleeding fissures; everted eyelidswith conjunctival irritation and edema; and a “fishmouth” appearance, with the mouth held open in an“O” shape (Rogers & Scarf, 1989). Intellectualdevelopment can be normal if the infant survives(Roberts, 1989). Survival and long-term disabilitydepend upon the severity of this genetic condition.Those most severely affected may die of sepsis orrequire extensive ongoing plastic surgery (Kuller &Lund, 1998). Harlequin ichthyosis is a rare condi-tion and one that is not well researched or reported,especially its effects on parenting, psychosocialsequelae, and long-term care requirements.

It is widely accepted that breastfeeding is the bestmethod for feeding infants (Canadian Pediatric Soci-ety, Dieticians of Canada & Health Canada, 1998;World Health Organization/United Nations Chil-dren’s Fund, 1989). The World Health Organizationrecommends that all infants be exclusively breastfedfor 6 months (INFACT Canada, 2001). The benefitsof breastfeeding include immunologic protectionand optimal nutrition for healing, enhanced attach-ment, and oromotor development (Riordan & Auer-bach, 1999).

These benefits are especially important for infantsborn with harlequin ichthyosis. These infants havespecial metabolic and nutritional needs, whichshould be addressed in a nutritional plan of care thatincludes breastfeeding. The jaw excursions and mas-seter muscle activity exclusive to breastfeedingenhance oromotor development (Inoue, Sakashita,& Kamegai, 1995). Infants with harlequinichthyosis have reduced jaw motility, with the jawoften being “fixed” in a wide-open position. The

chewing motions required for an infant to milk the breastare the same movements that would enhance massetermuscle development and jaw motility in the infant withharlequin ichthyosis. Breastfeeding can present significantchallenges, however, for these infants and their families.

Case Report

Baby G was born as the result of the fifth pregnancyof parents who are first cousins. The other four pregnan-cies ended in spontaneous abortions. An ultrasoundexamination at 21 weeks was reported as normal; at 35weeks, however, polyhydramnios was reported and thefetus was noted to have a flat forehead, flat nose, micro-gnathia, and short digits. At 39 weeks, Baby girl G wasborn by cesarean delivery because of failure to progress.Her Apgar scores were 5 and 7, and her birth weight was3,200 g.

At birth, Baby G was noted to be covered with a tight,whitish, shiny membrane scored by deep red fissures;both upper and lower lids of her eyes were ectropic, andher ears were covered by thick plates of scale, as was herscalp. Her nares were patent, and her mouth was heldopen by contracted skin. The diagnosis, suspected at birthand confirmed 7 days later through genetic assessment,was autosomal recessive lamellar ichthyosis, otherwisereferred to as harlequin ichthyosis. Initially, Baby G wascovered in warm saline dressings and transported to ourneonatal intensive-care unit in a tertiary pediatric hospi-tal for diagnostic tests and treatment.

Immediate supportive care included placing her in anisolette, where she could be in a moist, humid environ-ment. She was given skin care four times daily and cov-ered generously with sterile petroleum jelly. Her eyes weretreated with artificial tears, and sterile dressings wereapplied to all four extremities. She was cared for in pro-tective isolation.

The thick outer layers of her skin were slowly debrid-ed, leaving softer skin with thin scales. Her right hand,some fingers of the left hand, and some toes fell off owingto compromised circulation from the tightness of the skin.Her left hand had fingers joined, and her fourth digit wasembedded in her hand. Over time, we were able to batheher and add nonperfumed mineral oil as an emollient, aswell as a nonallergenic cleanser such as Cetaphil (Galder-ma Laboratories, L.P., Fort Worth, TX).

Dressing changes were stressful experiences, not onlyfor Baby G but also for the nurses caring for her. Onenurse reported feeling the “skin of her back coming loosein my gloved hand.” From the beginning, pain controlwas an issue, especially during dressing changes. Theanesthesia department was consulted, and a controlledsedation regimen using clonidine, midazolam, ketamine,and morphine was initiated for dressing changes.

Because of the severity of Baby G’s condition and highrisk for infection, her chances for survival were consid-ered very low. She received excellent nursing care and beatthe odds, however, never developing any life-threateningcomplications. Antibiotics were started at birth and dis-continued at Day 12. Baby G did not contract any seriousinfections, although she was successfully treated for oneminor eye infection. When it became evident that shewould survive, the multidisciplinary team met with BabyG’s parents to revise their earlier plans. They instituted aplan of care that would ultimately see her dischargedfrom the hospital to go home.

Intravenous access was a problem, and an umbilicalvenous catheter was inserted shortly after Baby G’sadmission to the unit. The catheter was our only site forinfusions. It was replaced often because we could notattach anything, not even tape, to her skin. The umbilicalvenous catheter access was no longer functioning at 30days, and medication was then given by nasogastric tube.Baby G was weaned off all sedation by 60 days of age.

When her skin became more intact, Baby G loved to betouched and to be held. She had become a “high touch”baby in a “high tech” environment. The costs of trans-portation limited her mother’s ability to be at the hospitalfor longer time periods, and it became difficult to meetBaby G’s needs for simple cuddling when her mother wasnot present. Creative staffing strategies provided solu-tions to enable staff nurses to spend more time with BabyG when her mother was unable to visit. It turned out thatenabling her mother to breastfeed was another great wayto meet this need for touch.

A common complication of harlequin ichthyosis is dif-ficulty feeding due mainly to lip inelasticity and the thickscales around the mouth. Once Baby G’s face was debrid-ed, her mouth remained fixed, open in an “O” shapeowing to the tight circumoral skin. An occupational ther-apist was consulted about oral feedings for Baby G. Sev-eral kinds of nipples were tried, including orthodontic,soft red rubber, cross cut, and cup feeding. The perspec-tive of the health care team was that this infant wouldprobably not be able to feed effectively by mouth.

Baby G was initially fed by nasogastric tube. She wason full feedings by 5 days of age. Her mother pumpedboth breasts to maintain a milk supply, which shebelieved was the best food for her infant. Initially, Baby Gwas fed breast milk only, but her weight gain was slowowing to her high metabolic needs. Because she frequent-

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Breastfeeding can present a significantchallenge for infants born with harlequin

ichthyosis and their mothers.

ly regurgitated feedings, it was believed that Baby Gmight be lactose intolerant. Subsequently, she waschanged to a lactose-free, 27-calorie formula withmicrolipids added to facilitate weight gain. She continuedto have an occasional small emesis but was usually fed ina reclining position, which may have also contributed tominor regurgitation. The use of hind milk or human milkfortifier for additional calories was not considered to bean option for Baby G. Use of these options might haveeliminated the need for switching from breast milk to for-mula, however, and would have contributed to improvedbreastfeeding support for her mother.

Weissinger (2000) described the infant mouth positionrequired for adequate latch during breastfeeding. She sug-gested that infants who have a good latch demonstrate anangle of approximately 140 degrees at the mouth corners.Other characteristics of an adequate latch include flangedlips, tongue scooped forward over the lower gum line,and chin close to the breast. One morning, we recognizedthat the exact fixed angle of Baby G’s mouth was at 140degrees. Here we had a lactating mother, but we had notthought that it would be possible to put Baby G to hermother’s breast. Why in complex medical cases do wenot consider breastfeeding as a natural first method offeeding?

When Baby G was 5 weeks old, her mother triedbreastfeeding for the first time, and to our amazement,the baby latched and suckled, with audible swallowing.We noticed that her tongue was able to extend forwardbeyond the lower gum line. She was able to make somejaw excursions, so her mother’s milk ejection reflex waselicited. There was some difficulty initially with positionand the slipperiness of her face due to the petroleum jelly,but Baby G’s mother was encouraged to keep trying. Shefound that the football or the transverse cradle holdworked best to keep her infant close to her breast. BabyG then began to breastfeed twice per day and was gav-aged or bottle-fed at other times. Her mother had anactive letdown of breast milk, which helped with milktransfer, and her milk supply increased after only 3 daysof intermittent breastfeeding. Baby G continued to be fedwith a combination of breast milk and 27-calorie formu-la to maintain weight gain and meet her high metabolicneeds for skin healing and tissue generation.

Baby G was active and alert, with reactive pupils andnormal suck, gag, and Moro reflexes. After pain medica-tion was discontinued, improvement was noted in heroromotor skills. She no longer fell asleep at the beginningof breastfeeding and could move her tongue in a moreorganized fashion. Her mother was able to recognize herfeeding cues as well as other indicators, such as when shewas awake or resting. This was difficult to assess, becauseher eyes were always open. For the first 2 weeks of BabyG’s life, her mother was unable to hold her because ofconstant sloughing of skin and apparent discomfort.

Once she began breastfeeding, an obvious difference wasobserved in the mother’s ability to handle Baby G, as wellas an increase in her confidence and desire to participatein her infant’s care. She also started to talk about Baby Gas her child, recognizing personality characteristics andcues.

There was real concern about Baby G’s ability to gainweight. An early assumption was made that she requiredlactose-free formula because of continuing diarrhea,although she had not really shown evidence of this whengiven breast milk alone. Breastfeeding was seen almost asa supplement to regular formula feedings. The real chal-lenge in this situation was to establish breastfeeding,maintain her mother’s milk supply, and support breast-feeding as the main feeding choice. This was very difficult,because Baby G’s mother was able to be at the hospitalonly at certain times of day due to economic constraintson the family.

The question arises, “How could we have ensured thatbreastfeeding remained the preferred choice of feeding,while providing sufficient calories for growth and keepingmetabolic demands at a minimum?” Again the use of hindmilk or human milk fortifier could have been considered.We should have been engineering the breast milk to suitthe infant’s needs instead of using formula as the primaryfeeding choice.

After approximately 3 months, Baby G was ready togo home. Her parents had learned how to care for her, she

was stable from a physiologic point of view, and herweight was slowly increasing. Her weight was 2,915 g atdischarge, and at home she was on lactose-free, 27-calorieformula with microlipids. She was to continue breastfeed-ing and was followed closely by community resourcessuch as home care, community health nurses, and herfamily physician. Her mother felt she would be able tobreastfeed better at home. The consideration of ongoingbreastfeeding support should be included in dischargeplanning.

The authors interviewed Baby G’s parents when shewas 4 months of age. According to her mother, Baby Gwas put on lactose-free, 24-calorie formula and then onregular formula. Baby G developed severe diarrhea on theregular formula so was restarted on lactose-free, 27-calorie formula. At this time, Baby G began to refuse the

September/October 2002 JOGNN 523

Early recognition of the potential forbreastfeeding and support toward thatend may increase the success of infants

who now survive against all odds.

breast, so her mother decided to discontinue breastfeed-ing and did not seek any further help with breastfeeding.Baby G began to gain weight again and was maintainedon the lactose-free, 24-calorie formula. Her mouth wasnow able to close further, from 4.5 cm to 3.5 cm, and shewas beginning to vocalize to her parents. She had a sleep-awake routine, and her parents were able to recognize hercues for care. Baby G continued to be on medication forher skin and nutrition, such as acitretin (a vitamin Aderivative), D-Vi-Sol (Mead Johnson Nutritionals, Evans-ville, IN), Fer-In-Sol (Mead Johnson Nutritionals, Evans-ville, IN), vitamin C, and zinc sulfate (oral vitamin sup-plements). This little girl will require extensive plasticsurgery in the future. We believe her survival is a directresult of her strength and the combined care of her par-ents and the dedicated team who provided such excellentnursing care during the first weeks of her life.

Implications for Practice and Research

Care provision was a challenge for this little girl bothtechnically and emotionally. It required extensive timeand effort, not only for the bathing and debriding but alsofor holding, feeding, and teaching her mother how to carefor her. Her mother tried to be with her every day and wasinvolved in her care. The mother also was aware of otherpeople’s response to her daughter. The hospital’s ethicistand the palliative care team provided support for both thenurses and the parents. It is important that health careprofessionals understand the need to involve ethicists andpalliative care specialists when caring for infants withcomplex, long-term needs.

This experience has led us to rethink our approachtoward breastfeeding and complex cases. Breastfeedingmay be the key to facilitating attachment in very chal-lenging situations. Breastfeeding and breast milk shouldalways be our first feeding choice. Oromotor develop-ment is an important benefit of breastfeeding that weshould not lose sight of, especially when there is a poten-tial for complications.

A mother’s desire to breastfeed is a critical part of theequation. This mother had a remarkable motivation tobreastfeed. Encouragement and close support from thebeginning are essential. This includes looking at suchthings as assessment of milk supply, the infant’s ability to

initiate breastfeeding, and ongoing support of breastfeed-ing after discharge from the hospital. If it is necessary fora child to be on analgesia, a medication schedule shouldbe established that does not interfere with but optimizesthe ability of the infant to breastfeed. Such a schedule alsowill enable the mother to get to know her infant’s cues.

Further research is needed to examine ways to facili-tate breastfeeding success with complex cases in a neona-tal intensive-care unit. Use of hind milk does providemore calories to preterm infants (Kirsten & Bradford,1999; Meier, 1997; Valentine, Hurst, & Schamler, 1994).Optimizing the use of hind milk instead of high-calorieformula to facilitate growth for infants with complexmedical conditions needs further examination. Long-termfollow-up of growth and development is needed in thesecases.

Children with harlequin ichthyosis have higher meta-bolic needs than other children. They have specificrequirements for supplements to support growth, fluids,and skin development. We are not sure how this diseaseaffects the absorption of nutrients, however. What, if any,supplements need to be added to a diet of breast milk tooptimize growth?

Health care professionals need to rethink theirapproach to the feeding issues involved in complex cases.More than just nutrition, feeding involves long-termdevelopment, both in growth and in facial and oral devel-opment. Early recognition of the potential for breastfeed-ing, and support toward that end, may improve the out-comes of infants who now survive against all odds.

REFERENCES

Canadian Pediatric Society, Dieticians of Canada & Health Cana-da. (1998). Nutrition for healthy term infants. Ottawa:Minister of Public Works and Government Services.

INFACT Canada. (2001). INFACT Canada press release May21, 2001: World Health Assembly settles duration ofexclusive breastfeeding. Toronto: Author.

Inoue, N., Sakashita, R., & Kamegai, T. (1995). Reduction ofmasseter muscle activity in bottle-fed babies. EarlyHuman Development, 42, 185-193.

Kirsten, D., & Bradford, L. (1999). Hindmilk feedings. Neona-tal Network, 18(3), 68-70.

Kuller, J., & Lund, C. (1998). Assessment and management ofintegumentary dysfunction. In C. Kenner, J. Lott, & A.Flandermyer (Eds.), Comprehensive neonatal nursing(2nd ed., pp. 648-681). Philadelphia: W. B. Saunders.

Meier, P. (1997). Professional guide to breastfeeding prematureinfants. Columbus, OH: Ross Laboratories.

Riordan, J., & Auerbach, K. (1999). Breastfeeding and humanlactation (2nd ed.). Boston: Jones and Bartlett.

Roberts, L. J. (1989). Long-term survival of a harlequin fetus.American Academy of Dermatology, 21(2, Part 2), 335-339.

Rogers, M., & Scarf, C. (1989). Harlequin baby treated withEtretinate. Pediatric Dermatology, 6(3), 216-221.

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Baby G’s survival is a direct result of herstrength and the care of her parents and the

dedicated team who provided excellent nursingcare during her first weeks of life.

Valentine, C., Hurst, N., & Schamler, R. (1994). Hindmilkimproves weight gain in the low-birth-weight infant fedhuman milk. Journal of Pediatric Gastroenterology andNutrition, 18(4), 474-477.

Wiessinger, D. (2000, June 16). Latching-on checklist for theearly days (Handout). Presented at the OVLC Conference,Ottawa, Latch, Supply and Language, Clinical Applica-tion in Breastfeeding, 7.

World Health Organization/UNICEF. (1989). Protecting, pro-moting and supporting breastfeeding: The special role ofmaternity services. Geneva: Author.

Patricia Ripmeester is a clinical educator, Neonatal Intensive-Care Unit, Children’s Hospital of Eastern Ontario, Ottawa,Canada.

Sandra Dunn is a perinatal coordinator, Perinatal PartnershipProgram of Eastern and Southeastern Ontario, Ottawa, Canada.

Address for correspondence: Patricia Ripmeester, RN, BScN,IBCLC, Neonatal Intensive-Care Unit, Children’s Hospital ofEastern Ontario, 401 Smyth Road, Ottawa, Ontario K1H 8L1Canada. E-mail: ripmeester@cheo.on.ca.

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