Patient Presentation
A 2-month-old male came to clinic for his health maintenance examination. The family needed some help with home health supplies and identifying some respite care. The past medical history was significant for epidermolytic ichthyosis diagnosed at birth but suspected as the father also had this problem. In the intensive care setting, he had blistering in various areas along with erythema and hyperkeratotic areas. He had some difficulty with feeding and was having problems with consistent weight gain and needed a high-caloric feeding regimen. He also had some problems with thermoregulation in the first few days of life and required 2 courses of antibiotics because of possible sepsis. He was tapering off pain medications.

The pertinent physical exam showed a fussy infant with copious amounts of lubricant over his body. His weight was 4453g (5th %) and he was gaining 12 grams/day. He would calm more when not handled, would look around and seem curious. His skin showed a few scattered open blisters with healthy tissue that was not infected among the plaque-like scales. He had no contractures. The rest of his examination was normal.

The diagnosis of epidermolytic ichthyosis with lower weight gain was made. The pediatrician reviewed the general home going plan with the family which included copious amounts of petroleum jelly to the skin and watching it closely. They were limiting his handling, including feeding him while he was propped up. They were monitoring him for potential infection and knew when to call dermatology for more help. He had a followup appointment with palliative care to continue to wean his pain medication. Infectious disease consultation had agreed that he should receive his regular vaccines at this time. The pediatrician offered to have his social worker meet with the family to discuss the supplies and respite care issues. “I know that palliative care can also help you with these problems, but my social worker can also help with coordinating your appointments and other help you may need in the future,” he stated. The mother stated that she would be very grateful for the help as a lot of his daily care was overwhelming her.

The patient’s clinical course revealed that over the next 16 months, the blistering resolved. He still had a lot of hyperkeratotic scale. As he got older and the blistering improved, his need for pain medication decreased and his general disposition improved, although he still had problems with sleep. He received live-virus vaccines at appropriate intervals as he did not have open skin during those visits.

Discussion
Ichthyosis is a large group of dermatological disorders which are caused by abnormal epidermal differentiation. The term ichthys means fish and refers to the scale-like dermatological pattern seen in these disorders.

Acquired ichthyosis is rare but more common in adults than children and has a rough, dry skin with prominent scaling, distributed symmetrically on the trunk and limbs (especially extensor surfaces), and is associated with autoimmune, infectious diseases, metabolic and malignant causes. Congenital or inherited ichthyosis is divided into non-syndromic (more common) and syndromic forms (generally very rare, e.g. Netherton syndrome or Sjogren-Larsson syndrome, Refsum syndrome, etc.). Specific diagnosis in the newborn period is not necessarily helpful, but with aggressive support, over time the specific clinical entity often becomes apparent. Treatment is also similar.

Some examples include:

• Ichthyosis vulgaris
  • Most common and mildest form
  • “…xerosis, scaling, pruritis and eczema, and it is strongly associated with atopic manifestations.” Back and lower legs are more affected.
  • Starts after 2 months of age, better in the summer
• Recessive X-linked ichthyosis
  • Second most common
  • Dark brown scale on entire body
  • Starts around birth and does not improve with age
• Harlequin ichthyosis
  • Autosomal recessive due to ABCA12 gene, very rare
  • Has thick, armor or plate-like scales which can cause contractures
  • Babies are often born premature
• Collodion baby
  • Autosomal recessive – various genes
  • This includes several forms but has “…a shiny, taut, cellophane-like membrane”. The membrane is shed over time and the clinical manifestations of the specific entity become more apparent.
  • Babies are often born premature
• Epidermolytic ichthyosis
  • Keratinopathic ichthyosis that is autosomal dominant due to KRT1 or KRT10 genes
  • Presents at birth with blistered or denuded skin but usually this diminishes and hyperkeratotic skin becomes more prevalent. The hyperkeratosis continues into adulthood.

Learning Point
The skin is a very important organ system, therefore complications of ichthyosis are because of the disruption of these vital functions:

• Fluid and electrolyte balance maintenance
  • Ichthyosis has increased risk of water loss, dehydration and electrolyte imbalance
  • Treatment includes close monitoring of weight, input/outputs, electrolytes and replacement with fluids and electrolytes as appropriate.
    Nutrition consultation may be necessary because of increased metabolic needs
• Barrier maintenance
  • Ichthyosis causes loss of barrier integrity (e.g. fissuring and denudation) including risk of infection and potential for absorption of substances, and can affect thermoregulation.
  • Treatment includes monitoring for infection and aggressive treatment for suspected infection, use of emollients to prevent barrier break down, minimal handling of patient/area, avoiding tape and using gauze or self-adherent wraps, avoiding topical substances which could lead to absorption to potentially toxic levels (e.g. silver sulfadiazine, salicylic acid, lactic acid, etc.), isolation of patient, and monitoring of temperature regulation and pain management
• Movement
  • Ichthyosis can cause contractures of various body parts which can restrict chest wall/lung movement, sucking and feeding, joint contractures and compartment syndrome
  • Treatment includes emollients to promote resolution or improvement and flexibility of the skin, respiratory support, nutritional support including nasogastric feedings, consultation with appropriate surgical services such as orthopaedics or ophthalmology (contractures can cause ectropion of the eyes) and otolaryngology/dental (for contractures of the mouth or other head and neck organs).

Questions for Further Discussion
1. What else can be considered in the differential diagnosis of blistering skin lesions at birth?
2. What are indications for a dermatology consultation? When would it be considered an emergency?

Related Cases

Disease: Ichthyosis | Skin Diseases

Symptom/Presentation: Rash

Specialty: Dermatology | Infectious Diseases | Neonatology | Palliative Care | Social Services

Age: Infant

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Skin Conditions

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Craiglow BG. Ichthyosis in the Newborn. Semin Perinatol. 2013;37(1):26-31. doi:10.1053/j.semperi.2012.11.001

Takeichi T, Akiyama M. Inherited ichthyosis: Non-syndromic forms. The Journal of Dermatology. 2016;43(3):242-251. doi:10.1111/1346-8138.13243

Yoneda K. Inherited ichthyosis: Syndromic forms. The Journal of Dermatology. 2016;43(3):252-263. doi:10.1111/1346-8138.13284

Glick JB, Craiglow BG, Choate KA, et al. Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care. Pediatrics. 2017;139(1). doi:10.1542/peds.2016-1003

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa