Dermatologic Therapy, Vol.

26, 2013, 3945

Printed in the United States All rights reserved

2013 Wiley Periodicals, Inc.

DERMATOLOGIC THERAPY
ISSN 1396-0296

INVITED ARTICLE

Complications of ichthyosis
beyond the skin
Lucia Z. Diaz*, John C. Browning, Aimee C. Smidt,
William B. Rizzo & Moise L. Levy
*Department of Dermatology, University of Texas Health Science
Center-Houston, Houston, Department of Pediatrics and Division of
Dermatology, University of Texas Health Science Center at San Antonio, San
Antonio, Pediatric Dermatology, Dell Childrens Medical Center, Austin,
Texas, Departments of Dermatology and Pediatrics, University of New
Mexico School of Medicine, Albuquerque, New Mexico and Department of
Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska

ABSTRACT: Although ichthyoses are noted for their skin features, like many dermatologic conditions,
patients are often impacted in ways beyond the skin. Much has been described in recent years regarding
quality of life and skin disorders. This is certainly the case for ichthyosis. For neonates or others with
diffuse involvement of their skin, nutritional needs are often exceeding normal requirements. These can
often result in growth abnormalities. Lastly, with specific subtypes of ichthyosis, compromise of tissues
around the eyes and ears can be of concern to some patients. Certainly, some forms of ichthyosis are
routinely complicated by such findings. It is important for practitioners caring for individuals with
ichthyosis to have these issues in mind.
KEYWORDS: ichthyosis, quality of life, growth, eye and ear

Introduction
This section will deal with issues of great importance to patients and families dealing with ichthyosis. First of all, the impact of this condition on the
overall quality of life will be addressed by Dr Smidt.
This is a complex set of concerns that vary in
intensity for individuals dealing with ichthyosis.
Nutrition and growth are of great importance for
all patients with diffuse skin disorders. This is no
exception for ichthyosis and has been reviewed by
Drs Diaz, Browning, and Levy. Lastly, various cliniAddress correspondence and reprint requests to: Moise L.
Levy, MD, Pediatric Dermatology, Dell Childrens Medical
Center, 4900 Mueller Blvd., Austin, Texas 78723; or email:
mlevy@sfcaustin.com.

cal types of ichthyosis are complicated by difficulties involving the eyes and ears; several such
problems will be reviewed by Dr Rizzo.

Ichthyosis quality of life

The spectrum of ichthyoses can be quite disfiguring, depending on type, severity and extent of body
surface area. The head/neck/ears and extremities
are typically involved, which are highly visible to
others and may negatively impact the patients
self-image and/or quality of life (QoL) in various
ways. As one affected individual verbalized: My
appearance is scary, ugly, or looking like a creepy
monster. Sometimes its hard looking at myself in
the mirror. (1) Because ichthyoses are relatively
rare, the general public is not usually familiar with

39

Diaz et al.

these conditions. Acceptance among peer groups

and lay population may be difficult and interpersonal relationships are often adversely affected.
Significant physical symptoms are also caused by
these disorders, namely skin discomfort, xerosis,
pruritus, hypo- or anhidrosis/heat intolerance,
vision loss/ophthalmologic abnormalities, and
potential joint limitations, which can alter an individuals ability to perform and/or enjoy daily
activities.
As noted previously, natural history varies and
also has impact on QoL: for example, ichthyosis
vulgaris (IV) may increase in scale-up until
puberty, at which point it may begin to decrease in
intensity as the patient ages. Lamellar ichthyosis
(LI), congenital ichthyosiform erythroderma (CIE),
and bullous variants are usually defined at
birth/early childhood and may be stable or worsen
through young childhood to puberty and adulthood. X-linked recessive ichthyosis (XLI) often persists into adulthood with little change in the initial
presentation but is usually milder overall. As there
is presently no cure, treatment is often symptomatic, labor-intensive, and time-consuming, and
includes prolonged bathing, use of various topical
emollients, keratolytics and medications, and
sometimes systemic retinoids.
Treatment itself can have a negative impact on
QoL, and further, many of the above modalities are
not prescribed and therefore not reimbursed by
typical insurance coverage, which translates into
significant time and expense for the affected individual. One study specifically examining the financial burden of the congenital ichthyoses found that
the annual average mean cost to a patient was
$3192 (societal/payer) and $1182 (personal/outof-pocket) (2). Of note, over-the-counter remedies
comprised 80% of personal medications and just
over 50% of the total mean cost incurred. As
this group notes, insurance carriers usually do not
reimburse for these modalities, leaving lowincome patients at high risk for suboptimal treatment and perhaps overutilization of prescription
medications because of lack of access and poorly
controlled skin disease.
Recently, there has been increased recognition of QoL issues in many dermatologic conditions, including the ichthyoses. A small subset
of adults surveyed with the Nottingham Health
Profile (NHP) and interviewed in focused sessions
reported that ichthyosis had negatively affected
their life and that childhood was the period of
greatest affliction (3). Common themes among
those childhood recollections included shyness,
discrimination/bullying, feeling like an outsider,

40

I have had a tough life and I have always been

unhappy. Physical symptoms were also noted to
limit activities during childhood, such as participation in sports because of heat intolerance. Ichthyosis was noted to affect clothing choice, peerpeer
interactions, romantic/sexual relationships, and
choice of profession.
There have been few other published reports
specifically quantifying impact of ichthyoses on
QoL. Studies typically utilize the Dermatology Life
Quality Index (DLQI) to measure QoL of older adolescent (age 17+) and adult patients. Some groups
have also employed general health-related QoL
indices such as the Health Related QoL, NHP, and
Short Form-36.
Results show that ichthyosis affects QoL similar
to, or more so than, other chronic skin diseases
like atopic dermatitis and psoriasis (4). The negative impact is more substantial in patients with LI
> IV > XRI, and more significant in adults versus
children overall. Females generally report greater
QoL impairment, specifically in subscales of daily
activities and treatment than males (5). The degree
of both erythema and hyperkeratosis, measured
according to the validated Congenital Ichthyoses Severity Index, are associated with higher
(worse) QoL scores. These factors also resulted
in increased resource utilization/practitioner
visits (6).
There have been no specific studies of the
impact of ichthyosis on QoL in affected children.
One subgroup of pediatric patients within a larger
review utilized the Childrens CDLQI included 15
children (ages 516 years) with various ichthyoses.(3) In this group, parents expressed the most
concern over their childrens symptoms and
treatment.
Groups such as the Foundation for Ichthyosis and Related Skin Types (http://www.
firstskinfoundation.org) and the Ichthyosis Support
Group (http://www.ichthyosis.org.uk) are instrumental in providing support, information, and
a sense of community for such patients and
their caregivers. Efforts to provide education and
exposure to similar patients may also decrease physician visits and/or time and money spent daily
on symptomatic treatments. Clinical and genetic
counseling also play very important roles in
providing multidimensional patient care. Thus,
it is vital for the practitioner to recognize the impact
of these disorders on QoL, beyond what might be
reported as physical signs and symptoms, and to
include QoL assessment in evaluations and treatment plans for patients with the congenital
ichthyoses.

Non-cutaneous complications of ichthyosis

Growth failure and vitamin

D-deficient rickets in ichthyosis
Hereditary and acquired ichthyoses are disorders
of cornification characterized by defective desquamation with hyperkeratosis with or without scaling
(7). Abnormal protease activity, lipid metabolic
defects, epidermal structural protein mutations,
and defective cellular communication lead to an
epidermal barrier dysfunction (8). In addition to
managing the skin, these children should be monitored for growth failure and vitamin D-deficient
rickets.
Vitamin D-deficient rickets and hyperparathyroidism have been described in cases of epidermolytic ichthyosis, IV, LI, XLI and nonbullous CIE
(913). Although most cases of ichthyosis with
rickets have been reported in developing countries,
nutritional deficiencies in developing countries do
not completely explain why rickets is seen in these
cases.
Milstone et al. (14) reported elevated parathyroid hormone and low-to-normal 25-hydroxy
vitamin D levels in children with various keratinizing disorders. They postulated that this results
from either the defective synthesis of vitamin D or
excess loss of calcium through an injured epidermis. More recently, a cross-sectional study in India
that included 45 children with disorders of cornification showed that having ichthyosis or another
keratinizing disorder increases the risk of vitamin
D deficiency and rickets several-fold. (9) They
concluded that vitamin D deficiency is seen in
rickets because of decreased sun exposure from
intolerance or embarrassment and defective skin
unable to synthesize vitamin D, especially in dark
individuals.
Moreover, after evaluating gastrointestinal
structure and function and nutritional status in 10
American children with ichthyosis and growth
failure, Fowler et al. (15) concluded that nutritional
deficiencies and gastrointestinal dysfunction are
not primary reasons for growth failure. The childrens calorie count was adequate to support
normal growth and there were no significant nutritional deficiencies except for low 25-hydroxy
vitamin D in 3 of 10 patients. They concluded that
children with ichthyosis have an increased caloric
need because of an impaired skin barrier. As a
result, an early nutritional assessment and caloric
supplementation is essential to maximize growth.
Children with ichthyosis also lose water easily
through their skin. This leads to dehydration and
constipation, which can interfere with further food
intake. Therefore, children with ichthyosis should

be given extra fluids and stool softeners when

needed.
Calcium and intramuscular or oral vitamin D
have been shown to improve rickets but not ichthyosis. (10,11) This is supported by a previous trial
where oral 1-alpha-hydroxy vitamin D3 was not
effective in treating ichthyosis (16). Topical calcipotriene (a vitamin D analog), however, reduces the
scaling and roughness of treated ichthyotic skin
without significant systemic absorption. (10, 17) It
is considered a safe medication and was not found
to cause hypercalcemia in adults with LI who used
up to 120 g weekly (17).
It is important to try to prevent rickets, vitamin
D insufficiency, and growth failure in patients
with ichthyosis. Assessment of growth parameters
and imaging should be done in these children.
Housz-Oro et al. (18) recommend serial bone
mineral density studies in addition to checking
serum 25-hydroxy vitamin D levels in patients
with ichthyosis. Vitamin D insufficiency is defined
as serum 25-hydroxy vitamin D of <20 ng/mL
while insufficiency is defined as <2129 ng/mL
(19). Experts recommend a level of at least 30 ng/
mL. (19) Chouhan et al. (9) suggests treating ichthyosis patients with prophylactic lifelong vitamin
D and a vitamin D-enriched diet. A highcalorie diet and fluid supplementation is also
essential.(15)
More studies are needed to determine if growth
failure and vitamin D-deficient rickets result from
an innate pathological process in ichthyosis or
as a consequence from the impaired epidermal
barrier with hyperkeratosis. The impact of acitretin
on growth and bone mineralization in ichthyosis
needs to be studied. A multicenter study including
patients with various skin types and environments
would further elucidate the causes and implications of growth failure and rickets seen in
ichthyosis.

Ocular abnormalities associated

with ichthyosis
A variety of ocular abnormalities are associated with ichthyosis and ichthyotic syndromes
(Table 1). The most commonly seen abnormalities
include ectropion, corneal alterations, cataracts,
and retinal defects. Some of these can lead to visual
impairment and even blindness if not treated in a
timely fashion. An ophthalmologic evaluation is
indicated for many, if not most, patients with ichthyosis to help in diagnosis and management.

41

42

Harlequin ichthyosis
Lamellar ichthyosis
X-linked (steroid sulfatase
deficiency)
Autosomal recessive congenital
ichthyosis (congenital
ichthyosiform erythroderma)
Keratitis-ichthyosis-deafness
syndrome
Steroid sulfatase contiguous gene
deletion
SjgrenLarsson syndrome
CEDNIK syndrome
MEDNIK syndrome
IFAP syndrome
CHIME syndrome
Dolichol kinase deficiency
Steroid 5a-reductase type-3
deficiency
Chondrodysplasia punctata,
X-linked dominant
(Conradi-Hnermann-Happle
syndrome)
Chondrodysplasia punctata,
X-linked recessive
ELOVL4 deficiency
Multiple sulfatase deficiency
Neutral lipid storage disease with
ichthyosis
Refsum disease
Trichothio-dystrophy (Tay
syndrome)
Rhizomelic chondrodysplasia
punctata

Cataracts

Keratitis

RP

Macular atrophy,
degeneration

Optic nerve
hypoplasia

Corneal
defects

Coloboma

Nystagmus

Photophobia

Feature incidence: , typically present; , frequent (>50%); , often present (1050%); , occasionally present.
CEDNIK, cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma; CHIME, ocular colobomas, heart defect, ichthyosiform dermatitis, mental retardation and ear
anomalies; IFAP, ichthyosis follicularis, alopecia, and photophobia; MEDNIK, mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma; RP, retinitis
pigmentosa.

Ectropion

Type of Ichthyosis

Table 1. Ocular abnormalities in the ichthyoses

Diaz et al.

Non-cutaneous complications of ichthyosis

Ectropion is a condition caused by vertical

shortening of the anterior lamella of the eyelid that
results in outward eversion of the eyelid. In
patients with ichthyosis, the hyperkeratosis affecting the lids causes shortening and eventual scarring of the eyelid (cicatricial ectropion). Ectropion
occurs frequently in more severe forms of ichthyosis, such as harlequin ichthyosis and LI, but rarely
in milder diseases (e.g., IV). It can be present at
birth or it may develop more slowly over time. It
commonly affects the lower eyelids, but can also
involve the upper lids. Failure to drain tears
through the tear duct results in epiphora, and the
inability to completely close the eyelids causes
exposure of the cornea to the atmosphere with
consequent corneal perforation, scarring and
blindness. The exposed conjunctiva can thicken
and become keratinized as well.
The treatment of ectropion is directed at protecting the cornea from developing exposure keratopathy. In infants born with severe ichthyosis,
ectropion is an urgent medical problem that
requires immediate attention (20). Medical therapy
begins with lubricating eyedrops consisting of
0.51% carboxymethylcellulose, or ointment if the
lids cannot be completely closed, especially when
sleeping. Room humidifiers help maintain a moist
environment for the eye. Topical therapy of the
eyelids with retinoid creams (0.051% tazarotene)
or 10% N-acetylcysteine emulsion in 5% urea can
prevent ectropion from developing, and even
reverse mild cases (21,22). Severe ectropion
requires surgical procedures that involve lengthening of the anterior lamella and/or lateral canthoplasty with grafting of relatively unaffected skin
(23,24). For the best outcome, an experienced ophthalmic surgeon should do the procedure. Longterm resolution of the ectropion may not be
complete if hyperkeratosis recurs on the eyelid
(25). In stubborn cases, systemic retinoids may be
helpful.
Corneal defects occur in several forms of ichthyosis and as a complication of untreated ectropion. Patients with keratitis-ichthyosis-deafness
(KID) syndrome have a vascularizing keratitis that
begins in childhood or early adolescence and
advances progressively in some patients to blindness (26). Neovascularization and conjunctivalization of the corneal surface and stroma results in
scarring. The severity of the keratitis in KID syndrome, however, varies widely and the therapeutic
approaches are accordingly broad. Treatment of
the ichthyosis with systemic retinoids offers no
benefit for the eye. Due to the progressive nature
of the keratitis, some severely affected patients

require surgical keratectomy with transplantation

of limbal tissue and amniotic membrane (27).
Corneal transplantation is usually ineffective.
XLI (steroid sulfatase deficiency) is associated
with corneal opacities in approximately 24% of
patients (28). The opacities usually develop in the
deep posterior corneal stroma close to Descemets
membrane, but can rarely involve the more anterior stromal layer. The opacities are small and
vision is not affected.
Corneal scarring and erosions with corneal vascularization can also be seen in ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
(29). Acitretin therapy may result in a modest
improvement in corneal erosions. In patients with
ichthyosis originating from multiple sulfatase deficiency, clouding of the corneas may be associated
with other systemic features of hepatosplenomegaly, coarse facies, and central nervous system
demyelination.
Retinal abnormalities are characteristic of
several ichthyoses. Most patients with Sjgren
Larsson syndrome, an inborn error of fatty aldehyde metabolism, have a distinctive crystalline
maculopathy with the appearance of so-called glistening white dots surrounding the fovea. The
macula may degenerate and it has a unique deficiency of macular pigments (30). In the context of
ichthyosis and neurologic symptoms, the maculopathy is a reliable diagnostic sign. Patients with
cerebral dysgenesis, neuropathy, ichthyosis and
palmoplantar keratoderma (CEDNIK) syndrome
have macular atrophy along with the other systemic findings. No effective therapy is available for
the retinal defects in these diseases.
Retinitis pigmentosa (RP) develops in patients
with Refsum disease, an autosomal recessive disorder with ataxia, deafness, peripheral neuropathy,
cardiac conduction defects, and ichthyosis. Night
blindness is an early symptom that precedes the
appearance of ichthyosis and neurologic disease.
RP also has also been reported in some patients
with contiguous gene deletions involving the X
chromosome and steroid sulfatase gene, a rare
genetic cause for XLI associated with neurologic
symptoms.
Therapy of RP is problematic. The symptoms of
Refsum disease are caused by accumulation of
phytanic acid owing to it defective oxidation. Phytanic acid is an unusual branched-chain fatty acid
that is derived from the diet (e.g., green vegetables
and dairy products). Some of the patients symptoms, including the ichthyosis and ataxia, respond
to dietary restriction of phytanic acid together with
plasmapheresis that lowers toxic phytanic acid

43

Diaz et al.

stores. However, the RP, once established, does not

regress.
Optic neuropathy is noted in at least two syndromic forms of ichthyosis: CEDNIK syndrome
and deficiency of steroid 5a-reductase type-3,
which is associated with defective protein glycosylation. No effective treatment is known.
Photophobia is a common symptom in IFAP syndrome, SjgrenLarsson syndrome, trichothiodystrophy with ichthyosis (Tay syndrome), and the
recently described ELOVL4 enzyme deficiency
(Table 1). Although no specific therapy is effective
in these diseases, the use of sunglasses helps most
patients when they are outside on bright days.
Cataracts occur in several of the ichthyosis,
including neutral lipid storage disease with ichthyosis (NLSDI), CEDNIK syndrome, and mental
retardation, enteropathy, deafness, peripheral
neuropathy, ichthyosis, keratoderma (MEDNIK)
syndrome and Conradi-Hunermann-Happle syndrome (X-linked dominant form of chondrodysplasia punctata). Therapy of the visual impairment in
some of these ichthyotic disorders may benefit from
cataract surgery, although experience is limited.
Nystgmus is prominent in those forms of syndromic ichthyosis that have brain malformations
and early visual impairment (Table 1). No effective
therapy exists.
Colobomas of the eye are characteristic of two
syndromes with ichthyosis. Ocular colobomas,
heart defect, ichthyosiform dermatitis, mental
retardation and ear anomalies (CHIME) syndrome
is a rare ichthyotic disorder with retinal and choroidal colobomas along with other non-ocular
defects (31). Colobomas of the iris and/or choroidretina are ocular developmental defects in patients
with the ichthyotic syndrome caused by steroid
5a-reductase type-3 deficiency. Visual impairment,
nystagmus, and less commonly cataract, microphthalmia, glaucoma, and optic nerve hypoplasia
also occur. This disease has only recently been
described and no specific therapy has been
reported for the ocular defects.

Ear abnormalities associated

with ichthyosis
A practical issue for many patients with one of the
more severe forms of ichthyosis is the development
of diminished hearing because of scale build-up
and blockage of the external auditory canal. This
problem requires regular curettage and debridement of the excess scale by a physician to maintain
hearing. In LI, harlequin ichthyosis and other

44

severe forms of ichthyosis, systemic retinoids will

improve the hyperkeratosis throughout the body,
including the external auditory canal. Nevertheless, these drugs are not primarily used for treating
the hearing impairment caused by scale build-up
alone.
Sensorineural deafness is a feature of several
syndromic forms of ichthyosis. In KID syndrome,
moderate-to-profound sensorineural deafness is a
characteristic finding that defines the disease.
Deafness is also present in many patients with
CEDNIK syndrome, MEDNIK syndrome, NLSDI,
and Refsum disease.
The deafness in these ichthyotic disorders is
usually helped with the use of hearing aids.
Cochlear implants have proved beneficial for the
deafness in KID syndrome (32) and may be useful
for other disorders. For patients with Refsum
disease, aggressive dietary phytanic acid restriction
may prevent progressive loss of hearing if started
early in the disease.

References
1. Hinton D. Living with ichthyosis. Dermatol Nurs 2009: 21
(2): 105108.
2. Styperek AR, et al. Annual direct and indirect health costs
of the congenital ichthyoses. Pediatr Dermatol 2010: 27 (4):
325336.
3. Ganemo A, et al. Quality of life in adults with congenital
ichthyosis. J Adv Nurs 2003: 44 (4): 412419.
4. Lundberg L, et al. Health-related quality of life in patients
with psoriasis and atopic dermatitis measured with SF-36,
DLQI and a subjective measure of disease activity. Acta
Derm Venereol 2000: 80 (6): 430434.
5. Ganemo A, et al. Health-related quality of life among
patients with ichthyosis. Eur J Dermatol 2004: 14 (1): 6166.
6. Kamalpour L, et al. Resource utilization and quality of life
associated with congenital ichthyoses. Pediatr Dermatol
2011: 28 (5): 512518.
7. Paller AS, Mancini AJ. Hereditary disorders of cornification.
Hurwitz clinical pediatric dermatology, 4th ed. Edinburgh:
Elsevier, 2011: 92114.
8. Williams ML, Elias PM. Enlightened therapy of the disorder
of cornification. Clin Dermatol 2003: 21: 269273.
9. Chouhan K, Sethuraman G, Gupta N, et al. Vitamin D deficiency and rickets in children and adolescents with ichthyosiform erythroderma in type IV and V skin B. J Dermatol
2012: 166: 608615.
10. Thacher TD, Fischer RP, Petttifor JM, et al. Nutritional
rickets in ichthyosis and response to calcipotriene. Pediatrics 2004: 114 (1): e119e123.
11. Nayak S, Behera SK, Acharjya B, et al. Epidermolytic hyperkeratosis with rickets. Indian J Dermatol Venereol Leprol
2006: 72 (2): 139142.
12. Kumar ST, Scott XJ, Simon A, et al. Vitamin D deficiency
rickets with lamellar ichthyosis. J Postgrad Med 2007: 53 (3):
215217.
13. Sethuraman G, Khaitan BH, Dash SS, et al. Ichthyosiform
erythroderma with rickets: report of five cases. Br J Dermatol 2008: 158: 603606.

Non-cutaneous complications of ichthyosis

14. Milstone LM, Ellison AF, Insogna KL. Serum parathyroid
hormone is elevated in disorders of keratinization. Arch
Dermatol 1992: 128: 926930.
15. Fowler AJ, Moskowitz DG, Wong A, et al. Nutritional status
and gastrointestinal structure and function in children with
ichthyosis and growth failure. J Pediatr Gastroenterol Nutr
2004: 38: 164169.
16. Okano M, Kitano Y, Yoshikawa K. A trial of oral 1alphahydroxyvitamin D3 for ichthyosis. Dermatologica 1988: 177:
23.
17. Lucker GPH, Van de Kerkhof PCM, Van Dijk MR, et al. Effect
of topical calcipotriol on congenital ichthyosis. Br J Dermatol 1994: 131: 546550.
18. Housz-Oro SI, Boudou P, Bergot C, et al. Evidence of a
marked 25-hydroxyvitamin deficiency in patients with congenital ichthyosis. J Eur Acad Dermatol Venereol 2006: 20:
947952.
19. Adams JS, Hewison M. Update in vitamin D. J Clin Endocrinol Metab 2010: 95: 471478.
20. Singh AJ, Atkinson PL. Ocular manifestations of congenital
lamellar ichthyosis. Eur J Ophthalmol 2005: 15 (1): 118
122.
21. Bassotti A, Moreno S, Criado E. Successful treatment with
topical N-acetylcysteine in urea in five children with congenital lamellar ichthyosis. Pediatr Dermatol 2011: 28: 451
455.
22. Gicquel JJ, Vabres P, Dighiero P. Use of topical cutaneous
N-acetylcysteine in the treatment of major bilateral ectropion in an infant with lamellar ichthyosis. J Fr Ophtalmol
2005: 28: 412415.
23. Uthoff D, Gorney M, Teichmann C. Cicatricial ectropion in
ichthyosis: a novel approach to treatment. Ophthal Plast
Reconstr Surg 1994: 10: 9295.

24. Ozgur OR, Akcay L, Tutas N, Ozkurt Y. Cicatricial upper and

lower eyelid ectropion in an ichthyosis patient. Surgical correction. J Dermatol Case Rep 2011: 5: 2729.
25. Cruz AA, Menezes FA, Chaves R, Pinto Coelho R, Velasco EF,
Kikuta H. Eyelid abnormalities in lamellar ichthyoses. Ophthalmology 2000: 107: 18951898.
26. Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de
la Luz Orozco M, Ruiz-Maldonado R. Keratitis, ichthyosis,
and deafness (KID syndrome): review of the literature and
proposal of a new terminology. Pediatr Dermatol 1996: 13:
105113.
27. Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik
A. Ocular manifestations of keratitis-ichthyosis-deafness
(KID) syndrome. Ophthalmology 2005: 112: e1e6.
28. Costagliola C, Fabbrocini G, Illiano GM, Scibelli G, Delfino
M. Ocular findings in X-linked ichthyosis: a survey on 38
cases. Ophthalmologica 1991: 202: 152155.
29. Hpker LM, Riberio CG, Oliveira LM, Moreira AT. Ichthyosis
follicularis, alopecia and photophobia syndrome (IFAP):
report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment. Arq
Bras Oftalmol 2011: 74 (1): 5557.
30. Van er Veen RL, Fuijkschot J, Willemsen MA, Cruysberg JR,
Berendschot TT, Theelen T. Patients with SjgrenLarsson
syndrome lack macular pigment. Ophthalmology 2010: 117:
966971.
31. Shashi V, Zunich J, Kelly TE, Fryburg JS. Neuroectodermal
(CHIME) syndrome: an additional case with long term
follow-up of all reported cases. J Med Genet 1995: 32: 465
469.
32. Barker EJ, Briggs RJ. Cochlear implantation in children with
keratitis-ichthyosis-deafness (KID) syndrome: outcomes in
three cases. Cochlear Implants Int 2009: 10: 166173.

45

Copyright of Dermatologic Therapy is the property of Wiley-Blackwell and its content may not be copied or
emailed to multiple sites or posted to a listserv without the copyright holder's express written permission.
However, users may print, download, or email articles for individual use.