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Genodermatosis: The Ichthyosis

The document discusses several inherited skin conditions collectively known as genodermatosis. It focuses on ichthyosis, describing it as a group of disorders characterized by dry, scaly skin without inflammation. Primary ichthyosis includes common forms like ichthyosis vulgaris and rare congenital types. Secondary ichthyosis can be caused by malignancies, infections, nutritional deficiencies, or medications. Treatment involves emollients, bath oils, and sometimes oral retinoids. The document also summarizes several other inherited conditions involving abnormal keratinization, including keratosis pilaris, Darier's disease, xeroderma pigmentosum, tuberous sclerosis, neurofibromatosis, and epidermol

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Oman Arif
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92 views

Genodermatosis: The Ichthyosis

The document discusses several inherited skin conditions collectively known as genodermatosis. It focuses on ichthyosis, describing it as a group of disorders characterized by dry, scaly skin without inflammation. Primary ichthyosis includes common forms like ichthyosis vulgaris and rare congenital types. Secondary ichthyosis can be caused by malignancies, infections, nutritional deficiencies, or medications. Treatment involves emollients, bath oils, and sometimes oral retinoids. The document also summarizes several other inherited conditions involving abnormal keratinization, including keratosis pilaris, Darier's disease, xeroderma pigmentosum, tuberous sclerosis, neurofibromatosis, and epidermol

Uploaded by

Oman Arif
Copyright
© © All Rights Reserved
Available Formats
Download as PDF, TXT or read online on Scribd
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Dr.

Ali

Genodermatosis
A number of skin conditions are known to be inherited. Many are rare, and will
therefore only be mentioned briefly.

The Ichthyosis

The ichthyosis is inherited disorders of Keratinization and epidermal


differentiation.
They are characterized by dry scaly skin and vary from mild and
asymptomatic to severe and incompatible with life.
Keratinization is abnormal. Some of the biochemical defects have been
identified, e.g. steroid sulphatase is deficient in sex-linked ichthyosis.
The word ichthyosis comes from the Greek word for a fish. It is applied to
disorders that share, as their main feature, a dry rough skin with marked
scaling but no inflammation.
Secondary or acquired ichthyosis describes similar scaly conditions appearing
later in life.

Classification
1-Primary ichthyosis:
Common:
Ichthyosis vulgaris.
X-linked recessive ichthyosis.
Rare:
Congenital autosomal recessive ichthyosis:
Nonbullous congenital ichthyosiform erythroderma.
Lamellar ichthyosis.
Harlequin fetus.
2-Secondary or acquired ichthyosis:
Paraneoplastic marker for lymphoma and internal malignancies.
Caution: Whenever ichthyosis appears in adult life for the first time, exclude
an underlying malignancy.
Infections: Leprosy, tuberculosis, syphilis.
Vitamin deficiency: Vitamin A, vitamin B6, and nicotinic acid deficiency
(pellagra).
Medications: nicotinic acid (most common), butyrophenone.
Note: Any drug that alters lipids is potentially capable of inducing an
ichthyosis-like condition.
Miscellaneous: Sarcoidosis, hypothyroidism, Down syndrome, long-term renal
dialysis, severe xerosis in the elderly.

Ichthyosis vulgaris

This is the commonest, and is often quite mild. The scaling usually appears
during early childhood.
Epidemiology: Prevalence of 1:250.
The skins on the trunk and extensor aspects of the limbs are dry and flaky, but
the limb flexures are often spared.
Dominant ichthyosis is frequently associated with an atopic constitution and
keratosis pilaris.
1

X-linked ichthyosis

This type of ichthyosis only affects males. The scales are larger and darker
than those of dominant ichthyosis, and usually the trunk and limbs are
extensively involved, including the flexures.
Epidemiology: Prevalence of 1:6000 among men.
Corneal opacities may occur, but these do not interfere with vision.
Affected individuals are deficient in the enzyme steroid sulfatase-the results of
abnormalities in its coding gene.
Both X-linked ichthyosis and autosomal dominant ichthyosis improve during
the summer months.

Treatment

Treatment consists of regular use of emollients and bath oils. Urea-containing


creams are also helpful.
The more severe types of ichthyosis often require oral retinoid therapy.

Keratosis pilaris

This common condition is inherited as an autosomal dominant trait.


The abnormality lies in the Keratinization of hair follicles, in which multiple
small horny follicular plugs affect the upper thigh, upper arm and face.
The changes begin in childhood and tend to become less obvious in adult life.
It is sometimes associated with ichthyosis vulgaris.
Application of 5% salicylic acid ointment or 10% urea cream lessens but does
not cure the problem.

Keratosis Follicularis (Dariers disease)

A rare autosomal dominant inherited disease with late onset.


Multiple discrete scaling, crusted and pruritic papules mainly in seborrheic
and flexural areas.
Malodorous and disfiguring, also involving nails and mucous membranes.
Itching and/or painful.
Complications
In some families, Dariers disease runs with bipolar mood disorder.
An impairment of delayed hypersensitivity may be the basis for a tendency to
develop widespread herpes simplex and bacterial infections.
Bacterial overgrowth is responsible for the unpleasant smell of some severely
affected patients.
Treatment
Severe and disabling disease can be dramatically alleviated by long-term
acitretin.
Milder cases need only topical keratolytics, such as salicylic acid, and the
control of local infection.
2

Xeroderma pigmentosum
Xeroderma pigmentosum is a group of rare autosomal-recessive conditions,
characterized by defective repair of ultraviolet-damaged DNA.
Photosensitivity begins in infancy, and freckles and keratosis appear on
exposed skin in childhood.
Squamous cell and basal cell carcinomas, Keratoacanthoma and malignant
melanomas subsequently develop in the UV-damaged skin.
Strict sunlight avoidance is necessary, but in its severe form the disease is fatal
in the second or third decade.
Prenatal diagnosis is possible and is used when parents have already had one
affected child.

Tuberous sclerosis

Tuberous sclerosis complex is an uncommon autosomal-dominant condition of


variable expression.
About 50% of patients are new mutations.
Hamartomas occur in several organs.

Clinical manifestations:

The features may not appear until puberty. Patients typically show:
Adenoma sebaceum: red-brown angiofibromatous papules that are usually
found around the nose
Periungual fibromas: pink fibrous projections are seen under the nailfolds.
Shagreen patches: connective tissue naevi, soft, yellowish with a cobblestone
surface, are found on" the lumbo-sacral region.
Ash-leaf macules: small (1-3 cm long) white oval macules, sometimes
Present at birth, and best seen with a Wood's light.
Neurological involvement, mental retardation and epilepsy are common.
Intracranial calcification is seen.
Other features: retinal phacomas, cardiac rhabdomyomas and renal tumors are
found.

Management

An affected individual should have a full clinical examination, often with


radiographs and CT scan of the head.
Children are screened for ash-leaf macules using a Wood's light.
The adenoma sebaceum may be improved by hyfrecation or laser, but tend to
recur.
Genetic counselling is given once the diagnosis is made.

Neurofibromatoses

These relatively common disorders affect about 1 in 3500 people and are
inherited as an autosomal dominant trait.
There are two main types: von Recklinghausens neurofibromatosis (NF1;
which accounts for 85% of all cases) and bilateral acoustic neurofibromatosis
(NF2); these are phenotypically and genetically distinct.

Neurofibromatosis type 1
Diagnostic criteria

Must have two for diagnosis.


6 caf au lait macules which are >5mm (before puberty) and >1.5 cm (after
puberty)
Axillary freckling (Crowe sign).
2 Lisch nodules (iris hamartomas)
Distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone
cortex with or without pseudarthrosis
Optic glioma
2 neurofibromas or a plexiform neurofibroma (large doughy mass with or
without underlying limb hypertrophy which may be present at birth).
First-degree relative with neurofibromatosis type 1

Complications
A neurofibroma will occasionally change into a neurofibrosarcoma.
Other associated features may include kyphoscoliosis, learning
impairment, epilepsy, renal artery stenosis and an association with
phaeochromocytoma.
Management
Ugly or painful lesions, and any suspected of undergoing malignant
change, should be removed.
The chance of a child of an affected adult developing the disorder is 1 in 2
Those who are affected should be kept under review and have their blood
pressure checked regularly.

Epidermolysis Bullosa

Epidermolysis bullosa (EB) consists of a heterogeneous group of


mechanobullous diseases due to mutations on at least ten different genes.
Disease manifestations range from very mild to severely mutilating and even
lethal forms that differ in mode of inheritance, clinical manifestations, and
associated findings.
Classification based on the site of blister formation distinguishes three main
groups:
Epidermolytic or EB simplex (EBS),
Junctional EB (JEB), and
Dermolytic, or dystrophic, EB (DEB).
In each of these groups there are several distinct types of EB based on
clinical, genetic, histologic, and biochemical evaluation.

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