Olmsted syndrome (OS) is a rare and complex skin disorder and was first described by Olmsted in 1927, with about 77 published cases as of 2016.1-3 The 2 hallmark features of OS are symmetrical periorificial hyperkeratotic lesions and mutilating palmoplantar keratoderma.2 Other clinical features can include alopecia, loss of hearing, recurrent bacterial/candida infection in keratotic areas, and hyperhidrosis of palms and soles.2 The course of the syndrome is progressive and disabling. Persons affected by this syndrome demonstrate numerous plaques on several specific areas of the skin that are pruritic and reportedly painful.4 Of the cases reported, those presenting during infancy demonstrate the following clinical features: alopecia, nail dystrophy, thickening of the skin of the palms, thickened plaques or papules, scaly erythema of the face and scalp, and erythema of the inguinal folds.4
Common treatments include exfoliation and treatments used for severe psoriasis; however, these treatments only manage, rather than eliminate, the plaques.5 Surgical excision and grafting have proven unsuccessful with reoccurrence of the keratoderma in the graft.2 Etretinate (synthetic aromatic retinoid) has been used with older children and adults with varying results on plaque management.6 There is a paucity of literature related to plaque management treatment among term and preterm infants.
This case study presents a set of premature infants born at 28 weeks' gestation. The extremely fragile nature of the premature infants' skin complicates treatment modalities. The care team partnered with the mother to come up with an evidence-based exfoliation and moisture retention plan of care. Evidence was extrapolated from known adult/older children treatments and modified to incorporate considerations for the premature skin. This article discusses treatments trialed while the infants were inpatient and treatments that were added once outpatient. See Table 1 for specific definitions related to important terms within this case study.
REVIEW OF LITERATURE
There is a paucity of literature on OS in infants diagnosed in the first year of life. A review of published literature resulted in 3 case studies. Cambiaghi et al5 presented a case of presumed term gestational age monozygotic male twins with OS.5 No prenatal history was provided, including whether the infants were hospitalized. The infants developed bilateral palmoplantar keratoderma and keratotic lesions on the external ear at around 4 months of age. The palmoplantar lesions progressively worsened as the infants became more mobile, eventually invading the entire plantar surface, toes, forefoot, and heels by 4 years of age. They also developed lesions below the nares and below the lower lip and demonstrated nail dystrophy. Treatments for these twins were unsuccessful in decreasing progression of syndrome and included antihistamines, the corticosteroid prednisone (Deltasone), and the retinoid etretinate (Tegison).5
Tao et al2 presented the case of a term male (18 months at the time the article was written) that presented with light white patches on the plates of bilateral fingernails and toenails at birth. No prenatal history was provided or whether the infant was hospitalized. By 3 months of age, papules developed on the palms, soles, and around the anus.2 The infant progressively developed painful keratotic plaques on the palms and soles with rough thickening around his anus.2 Over time, the infant exhibited loss of hair and developed red plaques with painful fissures around the mouth.2
Frias Iniesta et al6 described the case of an infant male (20 years of age at the time the article was written) with erythema to the scrotum and genital area that progressed to hyperkeratotic areas on the neck, cheeks, eyelids, and external ears by 2 months of age. No prenatal history was provided or whether the infant was hospitalized. By 9 months, the plaques had extended to the nose, mouth axilla, inner thighs, and intergluteal area.6 No specific treatments were described by the authors, only stating "no improvement was observed with any of the treatment given."6 Treatments that have been found unsuccessful in adults and children were antihistamines, antimicrobials, corticosteroids, salicylic acid, retinoid acid, and urea among the articles reviewed. Topical treatments such as soaks in warm water, oil application, wet dressings, and hydrocolloids over fissures only offer symptomatic relief of pain for persons with OS by reducing the thickness of the plaques.6
PRESENTING CONCERNS/PATIENT INFORMATION
The monochorionic/diamniotic twins in this case were born to nonconsanguineous parents. The mother was a 25-year-old gravida 1 who went into preterm labor at 27 weeks and 5 days. Maternal medications prior to delivery included: magnesium sulfate, penicillin for unknown group B streptococcal (GBS) status, and 2 doses of steroids. Twin A demonstrated arthrogryposis on a routine ultrasound prenatally. The twins were delivered at 28 weeks and 2 days via cesarean section for breech presentation of the presenting twin.
CLINICAL FINDINGS
During the first week of life the infants began to develop erythematous, dry skin that covered the face and scalp (see Figures 1 and 2). It was initially thought to be "cradle cap." By the second week of life, the dry skin developed into scaling that expanded to involve the scalp, face, eyebrows, ears, circumoral areas, arm pits, and labia. Plaques also developed in the ear canals of both the girls that required debridement by ears, nose, and throat (ENT). Visible softening and reduction of the plaques was noted after 1 week of the consistent treatment plan (see Figure 3).
DIAGNOSTIC FOCUS AND ASSESSMENT
Diagnostic assessments focused on the physical skin assessment of the twins. Dermatology was consulted to assist with diagnosis. Table 2 presents the differential diagnoses from the dermatologist's assessment to include: other severe forms of palmoplantar keratoderma, such as Mal de Meleda syndrome, Papillon-Lefevre syndrome, Clouston syndrome, Vohwinkel syndrome, pachyonychia congenita, and acrodermatitis enteropathica.2,7,8 Both of the girls demonstrated the prognostic characteristics of periorificial hyperkeratotic lesions and mutilating palmoplantar keratoderma. The palmoplantar keratoderma became more evident as they got older and became more mobile. The unique and characteristic plaque involvement of the mouth, eyes, and anus provided enough information to rule out the other diagnoses in the differential.
THERAPEUTIC FOCUS AND ASSESSMENT
When the twins demonstrated the erythematous and dry skin of the face and scalp, an emollient was applied several times per day in an attempt to rehydrate the skin. All trial interventions were topical and decided collaboratively with dermatology, neonatology, nursing staff, and the mother. The multidisciplinary team was thoughtful in choosing interventions, which are considered safe to use topically on premature skin while optimizing effectiveness extrapolated from adult literature. Product safety was based on the knowledge of increased transdermal absorption among premature infants, which assisted in the identification of products or derivatives of products currently approved for premature skin.9 Family input and preference for the use of natural remedies was taken into consideration, including suggestions of natural ingredients by the paternal grandmother.
As the erythematous dry skin progressed and became thicker with the rapid development of plaques, the partnership with the mother and consistency with nursing at the bedside became integral to the girls' care. The mother would make emollients from sunflower or olive oil and pure shea butter to use on the infants. She also made exfoliating scrubs composed of sea salt to aid in the softening and removal of the plaques with soft surgical scrub brushes. These treatments were applied daily to the girls' chin and scalp. The scalp was then covered with plastic wrap and hat to maintain moisture on the skin. A written plan of care was developed in collaboration with the mother and placed at the bedside to promote consistency (see Figure 4). Improvement in skin condition and plaque removal was noted once consistency was established (see Figures 3 and 5). At 3 weeks of age, the neonatal team partnered with ENT to manually debride the ear canals of plaques weekly to aid in the auditory development of the girls (see Table 3). At the fifth week of life, dermatology began additional therapy of 20% urea cream to soften plaques that was later found to be ineffective (after discharge).
FOLLOW-UP AND OUTCOMES
Prior to discharge the dermatology plan of care evolved to include vinegar baths and 20% urea cream. Urea helps dissolve the intracellular matrix of the stratum corneum, causing peeling of scaly skin, eventually resulting in softening of hyperkeratotic areas. The antimicrobial nature of vinegar can be used in the bath water to decrease the risk for skin infections and soothe irritated skin. The mother chose vinegar versus bleach baths to maintain adherence of natural ingredients for the care of the twins' skin. The discharge plan included daily chin exfoliation, head baths twice per day, and emollient application every 3 hours. Continued follow-up included dermatology, ENT, genetics, and neonatal intensive care unit (NICU) developmental follow-up clinic.
As they grew, medications commonly used to treat psoriasis were added to the treatment regimen to assist in controlling the plaque formation. These included acitretin (Soriatane) 2.5 mg, tazarotene (Tazorac gel), triamcinolone (Kenalog) 0.025% ointment times a day, hydroxyzine (Vistaril) as needed, mupirocin (Bactroban) times a day (to cracks), and ketoconazole (Nizoral) 2%, and hydrocortisone (Hydrocort) 2.5% (to diaper area). Acitretin is a retinoid that is taken orally to treat severe psoriasis, with a usual dosing of 0.25 to 1 mg/kg/day.10 Tazorac gel is a topical retinoid used to treat psoriasis and acne by slowing skin cell growth and decreasing cell inflammation. It can also be used to reduce facial wrinkles and discoloration by causing an increase in thickness of the outer layers of the skin.10 Triamcinolone and hydrocortisone are corticosteroids that can be taken orally, as a cream or ointment used to treat inflammation and mediate itching.10 Hydroxyzine is an antihistamine that is used to relieve itching, and it also has a sedative effect that can cause sleepiness.10 Mupirocin is an antibiotic often used to treat skin infections caused by bacteria, like impetigo.10 Ketoconazole is an antifungal commonly used to treat skin infections caused by fungus, like ringworm, jock itch, or athlete's foot.10
At 5 months of age, the mother had continued the twice-daily soaking baths, emollient, and exfoliation regimen along with the topical steroids, antifungals, and psoriasis medications as recommended by dermatology (see Figure 6). At 10 months of age, the psoriasis medication (Tazorac gel) was discontinued due to resultant thickening of the plaques of the face, palms, and soles of the feet. At this time, oral acitretin (retinoid therapy) was started to assist from a systemic standpoint. On this regimen, the twins continued to experience plaques of the face, palms, and soles of the feet, however, not as thick. Their mother worked diligently to keep the plaques as soft as possible while watching for any signs of inflammation and bacterial or fungal infection.
FAMILY-CENTERED CARE
As far as we are aware, this is the first time OS has been presented in a preterm infant, while documenting the nursing aspect and parental partnering in care. A family-centered approach from a nursing perspective created the basis for continuation of inclusive care with the family. Malusky11 described 5 defining characteristics of family-centered care (FCC) in the NICU that included collaboration between the healthcare teams and family members, open communication that provided insight and understanding of the family concerns, perceptions, strengths, and most importantly created a sense of individuality for the parents.12 The FCC model describes the care provided and described in this case study, with a strong focus on empowerment of the parent as "the expert" for the twin's care.12
The nurses created a forum for the parents to express their desire to keep treatments as natural as possible while actively engaging in the ongoing development of a daily routine. The mother was able to provide her skin assessment concerns and work with the nurse and providers to fine tune the skin care routine as needed. The incorporation of FCC in this case provides an example of how parents cannot only be "the expert," but also be an integral participant in regular skin assessments and fluid care planning.
DISCUSSION
Most cases of OS are sporadic; however, there have been some cases found in families with varying modes of inheritance. Mutations in the TRPV3 gene found on the chromosome 17p13.2 have been associated with OS. TRPV3 has known associations with skin inflammation, wound healing, and mediating itch and pain sensation.13 The twins in this case had genetic testing at 5 months of age, which identified TRPV3 mutations, determined to be of autosomal dominant inheritance. Unfortunately, the further genetic testing of the parents recommended by the genetics team to determine if they were carriers was denied by insurance.
The review of literature lacked specific interdisciplinary skin care management plans, prematurity considerations, and specific home care treatment plans. This case study illuminates the practicality of a consistent and evidence-based approach to a complex and rare skin disorder. Continual exfoliation and hydration of the skin is imperative in children with OS, and this is best accomplished with the integration of key stakeholders such as dermatology, nursing, and the family to provide a smooth transition home.
References