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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 diseases.

Disorder of keratinization is due to a defect in keratin metabolism.

In the 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.

Different syndromes, which are related to abnormal keratinization, include:



Ichthyosis is a group of disorders that are characterized by a persistent, non-inflammatory scaling disorder of the skin surface.

Types of icthyosis

Genetic icthyosis

Acquired icthyosis



Two types of icthyosis vulgaris are known; the dominant and the X- linked type.

  1. Dominant icthyosis vulgaris

    The dominant 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.

    The condition is worse in wintertime and with progress of age.

    Some cases of icthyosis are associated with atopic dermatitis .

Fig. 356. Icthyosis

Fig. 357. Icthyosis 
(Follicular Keratotic lesion)

Fig. 358. Icthyosis vulgaris

Fig. 359. Icthyosis vulgaris

Clinical Manifestations

Mild form shows slight roughening and dryness of the skin.

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. 

  1. Recessive Icthyosis Vulgaris

    This type is an X-linked recessive trait affects males.

Fig. 360. Icthyosis vulgaris

Clinical Manifestations

Large scales covering the neck face ears and the flexural surfaces as the axilla, the ante cubital and popliteal areas. The scalp is scaly.


                                                                                     Fig.360b.Icthyosis &KlineFilter's syndrome


Epidermis: Hypertrophic and hyperkeratotic.

Thick granular layer.


Emollients should be used regularly to relieve the dryness and itching and to decrease the tendency to skin fissuring.

Preparations 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.

Some reports showed good improvement of scaling by using 12% ammonium lactate containing lotions.

The 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.



This disease begins usually at birth and is inherited as an autosomal recessive trait.

Clinical Features

  1. Quadrilaterally 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 appearance.

  2. Ectropion



Hyper grannulosis

Prominent rete ridges

Mild perivascular infiltrate in the upper dermis and mitosis.


  1. Emolients

  2. Improvement may be achieved by 0.1 percent Vitamin A.


(Collodion baby)

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 itchyosis

Clinical Features

Skin manifestations

Infants may 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 eyelids.

The membrane 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 collodion membrane.

General Features

Affected 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 after delivery.

This very rare type may have other systemic manifestations. The disease is usually fatal within the first month of life.

Clinical Features

The skin is dry, hyperkeratotic and fissured.

The abnormal inelastic skin, resulting in ectropion and small-deformed ears grossly deforms the facial features.


Some reports show encouraging results with the use of etretinate for the affected infants.


(Epidermolytic hyperkeratosis)

This rare disease is inherited as a dominant gene.

Clinical Manifestations

The disease 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).

This type has to be differentiated from epidermolysis bullosa.



This is a familial disorder that is present at birth but may be delayed and appears first in the neonatal period or later.

Clinical Manifestations

Skin manifestations

Persistent generalized erythroderma and a fine scaling of the entire skin surface.

Uniform hyperkeratosis around the knees, elbows, ankles, the palms and soles.

Flexures lesions are characterized by erythema and peeling in localized areas.

General manifestations

Ectropion and deformed ears are features of more severely affected individuals.

Ocular defects, intercurrent infections, mental and growth retardation are common manifestations.

Differential Diagnosis

In early infancy the disease may simulate staphylococcal impetigo, congenital psoriasis and pityriasis rubra piliaris.


(Tay syndrome )

This syndrome is characterized by a dry, scaly skin disorder with localized areas of hyperkeratosis, mental retardation, deafness, nail and teeth abnormalities.


There is no specific treatment.

Generalized erythema of the affected infant must be carefully nursed. Hypothermia and severe dehydration need special care.

Corticosteroids have been administered systemically as a life saving in severe cases.

Later in life the use of emollients and keratolytics will be required.

Topical 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:

Congenital hemidysplasia.

Unilateral Ichthyosiform erythroderma.

Limb defects.

Some cases show central nervous system abnormalities.

Visceral defects.

Histologically, there is irregular acanthosis and hyperkeratosis as well as an inflammatory cell infiltrate.


Emollients 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.

Applications 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.

Both 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 therapeutic effect.



This is a rare X-linked dominant multisystem disorder, which is characterized by:

The skin disorder often has a distinctive, odd, linear or whorled appearance.

Ichthyosiform erythroderma.

Follicular atrophoderma.

Asymmetrical cataracts.

Coarse hair and patchy alopecia.

Short stature and short limbs.

Frontal bossing and dysmorphic facial features.

Radiologically shows calcified stippling of the epiphyses.



This uncommon neuroectodermal genodermatosis appears to be inherited as an autosomal recessive disorder.

Clinical Manifestations

  • The skin disorder becomes evident after the first few months of life.

  • Skin manifestations present with pinkish, scaly and hyperkeratotic lesions.

  • Neurological manifestations such as spastic diplegia, mental retardation, speech defects and epilepsy and characteristically macular degeneration.

  • Some affected individuals are born as collodion babies.


(Gottron‘s syndrome)

The disorder 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.


(Familial continual skin-peeling syndrome)

The manifestations appear after birth with dry, hyperkeratotic areas, which exfoliates in sheets spontaneously leaving abraded red skin lesions.

The skin is dry and dirty looking due to the hyperkeratosis.



Keratosis pilaris is a common disorder that is inherited as an autosomal dominant in childhood and reaches its peak incidence in adolescence      .

This disorder leads to keratinous plugs in the follicular orifices with varying degrees of perifollicular erythema.                                             Fig. 364.  Keratosis piliaris



Fig. 361. Keratosis Piliaris


Clinical Picture

The lesions 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).


(Lichen spinulosus)

Follicular 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 abdomen.

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

Familial dyskeratotic comedones.

This is characterized by scattered comedo-like lesions, inherited as an autosomal dominant condition.

The lesions appear around puberty, showing a predilection for the face, trunk, arms, and legs.

Retinoid therapy has proved unrewarding.

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