Ichthyosis with Confetti
What Is Ichthyosis with Confetti (IWC)?
Ichthyosis with confetti (IWC) is a rare type of congenital ichthyosiform erythroderma. It is also known by several other names, including ichthyosis en confetti, ichthyosis variegata, congenital reticular ichthyosiform erythroderma (CRIE), and MAUIE syndrome (micropinnae, alopecia universalis, congenital ichthyosis, and ectropion).1
At birth, individuals with IWC usually look similar to babies with other forms of congenital ichthyosiform erythroderma, often having widespread red, scaly skin, also can present with palmoplantar keratoderma (thickening of skin on palms and soles). As the child grows, however, the condition becomes more distinctive. Over time, numerous small patches of normal-looking white skin begin to appear within the red skin. These spots gradually increase in number and give the skin a “confetti-like” appearance, which is how the condition gets its name.2
Longterm Course
The condition is lifelong. Skin findings evolve early in life, with gradual expansion of the normal-appearing (“revertant”) skin areas over time. Patients have an increased susceptibility to recurrent bacterial and fungal skin infections.
Key Findings
- The presence of numerous small, sharply demarcated patches of normal-appearing white skin scattered within diffusely erythematous ichthyotic skin.
Associated Findings
- Palmoplantar keratoderma, hypertrichosis, ectropion, alopecia, and developmental delay may be present, among other systemic or cutaneous findings.
What are the Signs & Symptoms?
Although IWC follows an autosomal dominant pattern of inheritance, most reported cases occur sporadically, meaning there is usually only one affected individual in a family. At birth, most individuals with IWC present with generalized erythroderma, and some are born as a collodion baby, with a tight, shiny membrane covering the skin. As in other forms of congenital ichthyosiform erythroderma, the newborn skin often appears red, tight, and scaly.3,4
During infancy and early childhood, affected children typically continue to have persistent red, scaly skin. Over time, small patches of normal-appearing skin may begin to appear. Some individuals may also show additional features such as abnormally shaped ears or underdeveloped nipples (mammillae hypoplasia).4
In later childhood and adulthood, the number and size of the normal skin patches usually increase, creating the characteristic confetti-like appearance. Redness and scaling of the surrounding skin often remain prominent. Other associated features may include thickened skin on the palms and soles, increased hair growth (hypertrichosis) on the backs of the hands and feet, thickened or curved nails, and outward turning of the eyelids (ectropion). Some individuals may also have delayed growth, resulting in shorter height or lower body weight. Less commonly, eye alignment problems, joint tightness, or shorter fingers may be present.4
A less common form of IWC, referred to as type 2 IWC (IWC-II), may present somewhat differently. In IWC-II, features such as ectropion, ear malformations, hypertrichosis, short stature, and mammillae hypoplasia may be absent. In addition, the normal skin patches often appear later in life, sometimes not until adulthood, and tend to be much smaller, typically measuring 1–2 mm in diameter. In contrast, in the more common form (IWC-I), the white spots usually appear earlier in childhood and may grow to 1–2 cm or larger.5
During infancy and early childhood, affected children typically continue to have persistent red, scaly skin. Over time, small patches of normal-appearing skin may begin to appear. Some individuals may also show additional features such as abnormally shaped ears or underdeveloped nipples (mammillae hypoplasia).4
In later childhood and adulthood, the number and size of the normal skin patches usually increase, creating the characteristic confetti-like appearance. Redness and scaling of the surrounding skin often remain prominent. Other associated features may include thickened skin on the palms and soles, increased hair growth (hypertrichosis) on the backs of the hands and feet, thickened or curved nails, and outward turning of the eyelids (ectropion). Some individuals may also have delayed growth, resulting in shorter height or lower body weight. Less commonly, eye alignment problems, joint tightness, or shorter fingers may be present.4
A less common form of IWC, referred to as type 2 IWC (IWC-II), may present somewhat differently. In IWC-II, features such as ectropion, ear malformations, hypertrichosis, short stature, and mammillae hypoplasia may be absent. In addition, the normal skin patches often appear later in life, sometimes not until adulthood, and tend to be much smaller, typically measuring 1–2 mm in diameter. In contrast, in the more common form (IWC-I), the white spots usually appear earlier in childhood and may grow to 1–2 cm or larger.5
How is it diagnosed?
The diagnosis of IWC is primarily based on distinct clinical features. Doctors look for the characteristic pattern of generalized red, scaly skin present at birth, followed over time by the gradual appearance of many small patches of normal-looking skin. A skin biopsy may be performed and can show characteristic changes in skin cells that support the diagnosis. Genetic testing is important to confirm IWC and to distinguish it from other forms of congenital ichthyosis.
IWC-I is associated with changes in the KRT10 gene, while IWC-II is associated with changes in the KRT1 gene.2,6 These genes provide instructions for making keratin proteins, which help give skin cells their normal structure and strength. In IWC, the genetic changes affect the final part of the keratin protein, disrupting how skin cells are organized and leading to widespread redness and scaling. Over time, some skin cells can naturally correct this problem and gradually expand, forming the small patches of healthy skin that give IWC its characteristic confetti-like appearance.
IWC-I is associated with changes in the KRT10 gene, while IWC-II is associated with changes in the KRT1 gene.2,6 These genes provide instructions for making keratin proteins, which help give skin cells their normal structure and strength. In IWC, the genetic changes affect the final part of the keratin protein, disrupting how skin cells are organized and leading to widespread redness and scaling. Over time, some skin cells can naturally correct this problem and gradually expand, forming the small patches of healthy skin that give IWC its characteristic confetti-like appearance.
What is the Treatment?
Because IWC is rare, specific treatment guidelines have not been standardized, and care generally follows the same approach used for other forms of congenital ichthyosis. Treatment focuses on supportive and symptomatic management to improve skin comfort and reduce complications. Daily skin care is essential and includes regular bathing, gentle removal of scale, and frequent application of emollients and moisturizers to maintain the skin barrier and reduce dryness and scaling. Products containing ingredients such as urea or alpha-hydroxy acids may be helpful for some individuals. In more severe cases, topical or oral retinoids may be considered under close medical supervision, due to the potential for side effects. Attention to infection prevention, temperature regulation, and gentle skin care is also important. Treatment plans are individualized, and ongoing care with a dermatologist experienced in ichthyosis is recommended.7
Some individuals may develop joint tightness or contractures that can affect walking and daily activities. Evaluation for gait changes and joint stiffness is recommended, and physical therapy may help maintain mobility and function. Patients may also have an increased risk of skin cancer, so regular skin examinations by a dermatologist are important for early detection and treatment.1 Because IWC is a genetic condition, genetic counseling is recommended to discuss inheritance patterns, recurrence risk, and family planning.
Recent research has explored the use of skin grafts made from areas of naturally corrected, healthy-looking skin in individuals with IWC. In small studies, these grafts have been successfully generated and shown to behave similarly to normal skin. While this approach is still under investigation and not yet part of standard care, it represents a potential future treatment strategy that warrants further study.8
Some individuals may develop joint tightness or contractures that can affect walking and daily activities. Evaluation for gait changes and joint stiffness is recommended, and physical therapy may help maintain mobility and function. Patients may also have an increased risk of skin cancer, so regular skin examinations by a dermatologist are important for early detection and treatment.1 Because IWC is a genetic condition, genetic counseling is recommended to discuss inheritance patterns, recurrence risk, and family planning.
Recent research has explored the use of skin grafts made from areas of naturally corrected, healthy-looking skin in individuals with IWC. In small studies, these grafts have been successfully generated and shown to behave similarly to normal skin. While this approach is still under investigation and not yet part of standard care, it represents a potential future treatment strategy that warrants further study.8
Clinical Resources
- Clinicians seeking to confirm a diagnosis should visit the Edvyce portal to submit a case to experts in ichthyosis.
- Learn more about FIRST’s Resources for individuals and families affected by Ichthyosis?
- Information about current clinical trials and research studies can be found here.
References
- Choate KA, Milstone LM. Phenotypic expansion in ichthyosis with confetti. JAMA Dermatol 2015; 151: 15-6.
- Choate KA, Lu Y, Zhou Jet al. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science 2010; 330: 94-7.
- Foo SH, Terron-Kwiatkowski A, Baty Det al. Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10. Clin Exp Dermatol 2017; 42: 543-4.
- Spoerri I, Brena M, De Mesmaeker Jet al. The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3′ end of KRT10: from disease to a syndrome. JAMA Dermatol 2015; 151: 64-9.
- Lim YH, Choate KA. Expanding the Mutation Spectrum of Ichthyosis with Confetti. J Invest Dermatol 2016; 136: 1941-3.
- Choate KA, Lu Y, Zhou Jet al. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest 2015; 125: 1703-7.
- Long MC. Ichthyosis with confetti: a rare diagnosis and treatment plan. BMJ Case Rep 2014; 2014.8 Tanahashi K, Kono M, Yoshikawa Tet al. Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin. Br J Dermatol 2024; 191: 397-404.
Types of Ichthyosis
- Congenital Ichthyosiform Erythroderma (CIE)
- Lamellar Ichthyosis
- Collodion Baby
- Darier Disease
- Epidermal Nevus
- Epidermolytic Ichthyosis
- Erythrokeratodermia Variabilis
- Erythrokeratodermia Cardiomyopathy Syndrome
- Harlequin Ichthyosis
- Ichthyosis Vulgaris
- Ichthyosis with Confetti
- Keratitis-Ichthyosis-Deafness (KID)
- Netherton Syndrome
- Pachyonychia Congenita
- Palmoplantar Keratodermas
- Sjögren-Larsson Syndrome
- X-Linked Ichthyosis
- Chanarin Dorfman Syndrome
- CHILD Syndrome
- Conradi-Hünermann
- Ichthyosis Hystrix with Deafness (HID) Syndrome
- Ichthyosis Hystrix Curth-Macklin
- Refsum Disease
- Trichothiodystrophy
Phenotype Names
Ichthyosis with confetti, ichthyosis en confetti, ichthyosis variegata, congenital reticular ichthyosiform erythroderma (CRIE), and MAUIE syndrome (micropinnae, alopecia universalis, congenital ichthyosis, and ectropion)
EDD Name
KRT16-pEDD
OMIM
Inheritance
Autosomal dominant
Incidence
Exceptionally rare, with fewer than 100 cases reported worldwide.
Diagnostic Tests
Diagnosis is confirmed by genetic testing using blood or saliva samples. Skin biopsy of both affected and revertant areas is informative; revertant skin demonstrates loss of heterozygosity at the disease-causing mutation site.
Age of First Appearance
Affected individuals typically present at birth with features resembling other forms of congenital ichthyosiform erythroderma. During childhood, multiple small areas of normal-appearing skin progressively emerge.
Abnormal Gene
Keratin 10 (KRT10, IWC-I) and Keratin 1 (KRT1, IWC-II)
Primary Symptom Photos
