These are group of different skin diseases, which are due to
abnormality in keratinization. Some of these syndromes are rare. It
may be enough for the pediatrician to have a brief idea about such
keratinization is due to a defect in keratin metabolism.
normal epidermis, as the keratinocytes move from the basal-cell
layer to the surface, the process of terminal differentiation and
cornification involves complex metabolic changes.
syndromes, which are related to abnormal keratinization, include:
is a group of disorders that are characterized by a persistent,
non-inflammatory scaling disorder of the skin surface.
Two types of
icthyosis vulgaris are known; the dominant and the X- linked type.
type is an autosomal dominant skin disorder appearing in the first
months of life. The entire skin surface shows abnormal desquamation,
but the degree of scaling is worse on the extensor surfaces,
particularly the legs.
condition is worse in wintertime and with progress of age.
of icthyosis are associated with atopic dermatitis .
Fig. 356. Icthyosis
Fig. 357. Icthyosis
(Follicular Keratotic lesion)
Fig. 358. Icthyosis vulgaris
Fig. 359. Icthyosis vulgaris
form shows slight roughening and dryness of the skin.
manifestations present with follicular keratotic lesions,
where orifices are plugged by horny debris showing
follicular ‘spines‘ as well as dry scaly skin on the
back of hands.
type is an X-linked recessive trait affects males.
Fig. 360. Icthyosis vulgaris
covering the neck face ears and the flexural surfaces as the axilla,
the ante cubital and popliteal areas. The scalp is scaly.
Hypertrophic and hyperkeratotic.
should be used regularly to relieve the dryness and itching and to
decrease the tendency to skin fissuring.
containing urea and 2 per cent salicylic acid in a suitable vehicle
for severe skin scaling. Care should be taken into
consideration when using topical salicylic acid in children due to
the possibility of toxic absorption.
showed good improvement of scaling by using 12% ammonium lactate
retinoids group of drugs may give good improvements, but the side
effects limit their use in infants and young children and may be
reserved for severe reluctant cases in older age groups.
Antihistamines may be needed in the presence of itching.
begins usually at birth and is inherited as an autosomal recessive
shaped large grayish brown scales, free at the edges and adherent
in the center. The areas involved in mild cases are the
antecubital, popliteal and the neck. The palms and soles may
present with mild hyperkeratosis. The follicles have a crateriform
perivascular infiltrate in the upper dermis and mitosis.
Improvement may be achieved by 0.1 percent Vitamin A.
This is a
rare severe type of icthyosis present at birth of unknown etiology
and has a high mortality rate. It is believed that lamellar
exfoliation of the newborn (collodion baby) is a form of lamellar
be born with a distinctive, tough, inelastic collodion-like membrane
covering their bodies. The constricting membrane produces a peculiar
position of immobility of the limbs and causes ectropion of the
eventually fissures and peels. If the baby survives, the membrane is
shed, usually to reveal a more characteristic ichthyosiform
abnormality beneath. Uncommonly, normal skin is found beneath the
infants appear very ill, dehydrated and in danger of hypothermia.
This is a
more severe form of the collodion baby disorder affecting the skin
in utero and causing thick, horny, armor-like plates that cover the
entire skin surface. There is usually stillbirth or early death
rare type may have other systemic manifestations. The disease is
usually fatal within the first month of life.
The skin is
dry, hyperkeratotic and fissured.
inelastic skin, resulting in ectropion and small-deformed ears
grossly deforms the facial features.
show encouraging results with the use of etretinate for the affected
disease is inherited as a dominant gene.
appears shortly after birth, and is characterized by generalized
erythema in early infancy, hyper keratotic areas, scaling and
blister formation. The blisters may occur anywhere, but tend to form
at the sites of trauma and as a result may develop over the knees
and elbows especially when the child begins crawling and walking.
The skin has
a thickened, horny, arm-like scales, which are present at birth and shed
later on leaving a raw surface. The areas involved are the flexures and the
inetertriginous areas. Localized verrucuous lesions and bullous type
is known (tichyosis hystrix).
has to be differentiated from epidermolysis bullosa.
BULLOSA OF SIEMEN
This is a
familial disorder that is present at birth but may be delayed and
appears first in the neonatal period or later.
generalized erythroderma and a fine scaling of the entire skin
hyperkeratosis around the knees, elbows, ankles, the palms and
lesions are characterized by erythema and peeling in localized
and deformed ears are features of more severely affected
defects, intercurrent infections, mental and growth retardation are
infancy the disease may simulate staphylococcal impetigo, congenital
psoriasis and pityriasis rubra piliaris.
syndrome is characterized by a dry, scaly skin disorder with
localized areas of hyperkeratosis, mental retardation, deafness,
nail and teeth abnormalities.
There is no
erythema of the affected infant must be carefully nursed.
Hypothermia and severe dehydration need special care.
have been administered systemically as a life saving in severe
life the use of emollients and keratolytics will be required.
retinoic acid may be helpful in some cases. Etretinate, in a dose of
0.5-1.0 mg/kg/day, can provide great relief for some patients,
although treatment must be lifelong to maintain improvement.
This is a
rare variant of ichthyosiform erythroderma, characterized by:
show central nervous system abnormalities.
there is irregular acanthosis and hyperkeratosis as well as an
inflammatory cell infiltrate.
and keratolytics can help mild cases. Salicylic acid 2-6% in white,
soft paraffin can remove hard scaly masses, but care must be taken
to ensure that salicylism does not develop.
of urea-containing ointment sometimes help, and topical preparations
containing hydroxyacids such as tartaric acid, alpha-ketoglutaric
acid and pyruvic acid have also been used with some success.
isotretinoin and etretinate have been found to be of great benefit
to severe cases. As with retinoid treatment for other disorders of
keratinization treatment has to be lifelong to maintain a
This is a
rare X-linked dominant multisystem disorder, which is characterized
disorder often has a distinctive, odd, linear or whorled appearance.
and patchy alopecia.
stature and short limbs.
bossing and dysmorphic facial features.
shows calcified stippling of the epiphyses.
uncommon neuroectodermal genodermatosis appears to be inherited as
an autosomal recessive disorder.
disorder becomes evident after the first few months of life.
manifestations present with pinkish, scaly and hyperkeratotic
manifestations such as spastic diplegia, mental retardation, speech
defects and epilepsy and characteristically macular degeneration.
affected individuals are born as collodion babies.
is a disease of keratinization, starts in childhood and is
characterized by large, symmetrical fine scaly plaques of erythema
with an orange hue involving the cheeks, shoulder girdle, ankles,
wrists and buttocks.
continual skin-peeling syndrome)
manifestations appear after birth with dry, hyperkeratotic areas,
which exfoliates in sheets spontaneously leaving abraded red skin
The skin is
dry and dirty looking due to the hyperkeratosis.
pilaris is a common disorder that is inherited as an autosomal
dominant in childhood and reaches its peak incidence in adolescence .
disorder leads to keratinous plugs in the follicular orifices with
varying degrees of perifollicular erythema.
Fig. 364. Keratosis
Fig. 361. Keratosis Piliaris
appear as small gray to white plugs of keratin that obstruct the
mouths of the follicles entrapping the hair. The sites of
predilection are the extensor surfaces of the upper arms, thighs and
buttocks. Some follicles are completely spared while adjacent ones
are grossly plugged showing a long strand of keratin protruding when
examined in light (antenna sign).
keratosis is a disease of abnormal keratinization that appears in
childhood. The skin lesion presents with grouped follicular papules
occluded by a projecting keratinous spine. The commonest sites
involved are the extensor surface of the extremities, thighs and
Fig. 362. Follicular Keratosis
Fig. 363. Follicular Keratosis
A number of
skin disorders may give rise to similar skin lesions mainly lichen
planus and seborrheic dermatitis.
Fig. 365. Follicular Keratosis
characterized by scattered comedo-like lesions, inherited as an
autosomal dominant condition.
appear around puberty, showing a predilection for the face, trunk,
arms, and legs.
therapy has proved unrewarding.