INFANTILE
HYALINE FIBROMATOSES
This
connective tissue disorder usually appears at birth or develops at
any age up to the third year.
Clinical
Features
Skin lesions
are characterized by firm, smooth, pink or flesh colored nodules,
which are found on one or more fingers or toes. The thumbs and great
toes are spared. The swellings, which are firmly attached to the
skin, are usually on the extensor aspect or the side of the terminal
phalanges. Spontaneous regression usually occurs within two years.
JUVENILE
PALMOPLANTAR FIBROMATOSES
This is an
invasive calcifying tumor of the palms and soles with a unique
histological pattern, occurring usually in young children as firm,
fixed, fibrous nodules.
INFANTILE
STIFF SKIN SYNDROMES
(Infantile
Systemic Hyalinosis)
This
syndrome affects infants in the first weeks of life, causing
limitation of joint mobility with diffuse thickening of the joints
and hyaline tissue deposit. General manifestations: gingival
hypertrophy, subcutaneous nodules of the perianal, lips, and ears.
Systemic
manifestations: diarrhea, growth failure, recurrent infections may
accompany the syndrome.
CONGENITAL
FASCIAL DYSTROPHY
This
hereditary connective tissue disorder appears in early infancy and
is characterized by mild hirsutism, limitation of joint mobility and
localized areas of stony-hard skin. The condition affects the deeper
skin and fascia which is much thicker than normal and tends to be
most pronounced in the buttocks and legs.
PREMATURE
AGING SYNDROMES
All the
premature aging syndromes are probably inherited, though the defect
may not be obvious in the first few years of life.
Clinical
Features
Skin changes
:
Loss of
cutaneous fat leading to atrophy and wrinkling.
Canities.
Hair loss.
Nail
dystrophy.
Defective
pigmentation.
Poikiloderma,
sclerosis and ulceration.
Different
syndromes associated with premature aging are:
-
Inherited
syndromes:
Pangeria,
Progeria
Acrogeria.
-
Congenital progeroid syndromes:
Down‘s
syndrome
Neonatal
pseudo-hydrocephalic progeroid syndrome
(Wiedemann-Rauchenstrauch)
Osteodysplastic
Xeroderma
Wrinkly skin
syndrome
Familial
mandibulo-acral dysplasia.
-
Excessive exposure to irradiation (usually UVR).
-
Photosensitivity, especially congenital, e.g. poikiloderma
congenitale, xeroderma pigmentosum, Cockayne‘s syndrome.
-
Diseases
causing elastolysis, e.g. cutis laxa.
-
Thickened
immobile skin, e.g. diabetic cheiroarthropathy.
-
Fragile
skin, e.g. prolidase deficiency.
Loss of
subcutaneous fat e.g. generalized lipodystrophy.
PREMATURE
AGING SYNDROME
(Leprechaunism)
(Donohue‘s
syndrome)
This is an
inherited syndrome that begins early after birth and is
characterized by resistence to insulin. The defect is in the
receptor binding, post receptor or in both. Fibroblasts respond
poorly to the metabolic actions of insulin and to the actions of
several other growth factors as epidermal growth factor.
Clinical
Features
The child is
abnormal at birth with low birth weight and the disease is usually
fatal.
Growth is
generally retarded, the nutritional status remains poor and
susceptibility to infection is high.
The skin
appears too large for the body, loosely folded at the flexures, and
may be corrugated with gyrate folds on the hands and feet, which may
be disproportionately large.
Hypertrichosis
of the forehead and cheeks.
Progressive
muscle wasting.
The bone age
is retarded and there may be metaphyseal and epiphyseal dystrophy.
The nose is
broad, the ears are low set and large.
The eyes are
widely spaced.
The breasts
and the penis or clitoris may be slightly hypertrophic.
WERNER‘S
SYNDROME
(Adult
premature aging syndrome)
Clinical
Manifestations
The earliest
manifestations of the syndrome are:
Graying at
the temples
Skin
manifestations: the
skin becomes tense, shining and adherent. The lower legs and feet,
forearms and hands are most severely involved and to less extent
the face and neck.
Keratoses
and ulcers: over
pressure points on the feet and ankles.
Pigmentation:
mottled or diffuse and telangiectasia are often conspicuous on the
limbs, face and neck.
Subcutaneous
tissue: loss of
subcutaneous tissue results in a bird-like faces and thin spindly
legs, which contrast with the normal or obese trunk.
Joints:
become fixed and there may be sclerodactaly and acral gangrene.
The voice:
may be high pitched and hoarse from thinning of the cords and
fixation of the epiglottis.
Intelligence
is usually normal.
Endocrine
changes: small
stature and hypogonadal, with sparse or absent pubic and axillary
hair.
Diabetes:
This type is characterized by relatively low blood glucose levels
and peripheral resistance to insulin.
Eye changes:
Cataracts develop between the ages of 20 and 35 in most cases and
are usually posterior and subcapsular. Other ocular defects may
occur.
Malignancy:
fibrosarcomas, which occur in 10% of patients. Carcinoma has
developed in a chronic leg ulcer.
Blood
vessels: atheroma
develops early.
Death
usually occurs in fourth to sixth decade, due to myocardial
infarction or malignancy.
Diagnosis
The disease
has characteristic clinical features with multi-systems involvement.
The
radiological changes are often striking. There may be calcification
of arteries, ligaments, tendons and subcutaneous tissue with
osteoporosis of the extremities, especially the legs.
PROGERIA
(Hutchinson-Gilford
syndrome)
This is an
autosomal recessive syndrome where fibroblast survival time is
decreased with increased production of hyaluronic acid that appears
in urine.
Clinical
Manifestations
General
features
Affected
children usually appear normal at birth.
In the first
year the infant manifests with retarded growth.
In the
second year there is growth failure with reduced subcutaneous
fat on the face and limbs.
Prominent
eyes and scalps
veins, bird facial appearance, peaked nose and centrofacial
cyanosis.
Micrognathia
and thin lips, large
cranium with patent fontanels and frontal bossing.
Skin
manifestations
Thin, taut
and shiny skin in some areas but lax and finely wrinkled in others.
Hair changes:
Thin hair and alopecia may develop.
Sweat glands:
Hypohidrosis due to decreased eccrine sweat glands.
The veins are
prominent and there may be easy bruising.
|
Fig. 303. Progeria |
After
several years the manifestations are:
Hyperpigmentation:
progressive mottled hyperpigmentation develops, most marked on
exposed sites, but there is no photosensitivity.
Thickened
sclerotic areas: may
be present on the lower trunk or thighs and in one case multiple
keloids developed on the hands and arms .
Nails:
are usually small, thin and dystrophic. Koilonychia and
onychogryphosis may occur.
Teeth:
The dentition is abnormal and delayed. There may be skeletal
abnormalities, such as dystrophic clavicles and coxa vulga and joint
contractures.
Nipples:
may be hypoplastic.
Bone
resorption: may lead
to frequent fractures .
Sexual
maturation : is
absent.
Intelligence
is normal.
Death
usually occurs in the second decade as a result of severe
generalized atheroma.
ACROGERIA
Acrogeria is
characterized by cutaneous atrophy and loss of subcutaneous fat
particularly over the distal extremities, leading to premature aging
of the extremities. Acrogeria begins at birth, where the general
health and life expectancy are normal.
Clinical
Manifestations
Short
stature and low birth weight.
The skin
becomes dry, thin, transparent and wrinkled, especially over the
hands.
Poikiloderma
and telangiectasia and easy bruising due to prominent veins as a
result of lack of the supporting subcutaneous fat.
The hands
and feet may be very small.
The face
appears ‘pinched‘, with a hollow-cheek ‘owl-eyed‘
appearance, with a beaked nose and thin lips.
Micrognathism
may be present.
Premature
senility due to lack of subcutaneous fat.
Nails may be
atrophic or thickened.
WRINKLY SKIN
SYNDROME
The
manifestation of this rare familial syndrome appears at birth. The
cause is unknown, where the dermal collagen and elastin appear
normal on light microscopy.
Clinical
Manifestations
Skin
manifestations
Dry wrinkled
skin of the hands, feet and ventral surfaces of the trunk.
General
manifestations
The veins
are unduly prominent.
There may be
also mental retardation, ocular defects and poor muscle tone.
DIABETIC
THICK SKIN
Skin of
diabetics may show different changes mainly: Thick, tight waxy skin,
limited joint mobility, frozen shoulder and Dupuytren‘s
contracture. The “prayer sign“ in which the patient tries to
oppose the two palms provides an easy screening test.
Retinal and
renal disease due to microvascular damage.
The
histology of the skin changes resembles systemic sclerosis. The
difference is a large collagen fibers, thickening of the capillary
basement membrane and increased mucin.
PERFORATING
DERMATOSES
Perforating
dermatoses include different types of skin diseases in which some
tissue protrudes from the dermis. The manifestations of this
syndrome are due to defect in collagen, elastic tissue or defect in
the epidermal keratinocytes.
The extruded
materials may show inflammatory cells, red cells, microorganisms and
extracellular substances, such as mucin or altered connective tissue
components.
-
Primary
perforating dermatoses
These
include the following types:
Reactive
perforating collagenosis
Perforating
folliculitis
Reactive
perforating folliculitis (Kyrle‘s disease)
Perforating
serpiginous dermatoses.
-
Secondary
perforating dermatoses:
The
condition is secondary to an underlying disease, such as granuloma
annulare or pseudoxanthoma elasticum.
Perforating
dermatoses secondary to exogenous factors include:
Chemicals
applied to the skin topically or by intradermal injection of
medications such as steroids may lead to perforating disease.
Reactive
Perforating Collagenosis
The
condition usually starts in early childhood.
Clinical
Features
The primary
lesion is skin colored small papules, which increase in size within
one month to about half centimeter and then become umbulicated with
keratinous plug. The lesions regress within two months leaving
slight scarring or hypopigmentation. The lesions may recur again,
can be elicited by trauma as a linear lesion, or can be produced in
response to cold and regress by warming the area.
Treatment
Topical
retinoids may reduce the number of lesions.
Oral
isotretinoin, methotrexate, emollient creams, topical steroids under
occlusion may help some cases.
Perforating
serpengious elastosis
The age of
onset ranges from 6 to 20 years.
Clinical
Manifestations
Small horny
or umbulicated papules appear mainly on the back, sides of the neck,
cheek and arms. Skin lesions may be unilateral or bilateral and
symmetrical.
The lesions
are characteristically arranged in lines, circles or segments of
circles in a serpiginous pattern. The individual papules may remain
small or may enlarge slightly to assume a crateriform appearance
with an elevated edge and a central plug, which may leave an area of
atrophic skin surrounded by smaller papules, each with a horny plug.
The lesions
may persist for several years but eventually involute spontaneously
to leave reticulate atrophic scars, which is liable for keloid
transformation.
COLLOID
MILIUM
Colloid
milium or colloid degeneration of the skin is a degenerative skin
changes, characterized clinically by the development of yellowish,
translucent papules or plaques on light-exposed skin and
histologically by the presence of colloid in the dermal papillae.
In young
children, the lesions are often confined to the face, around the
orbits, the backs of the hands, the back and sides of the neck and
the ears, with diffuse infiltration surmounted by innumerable small
papules, which may appear vesicular.
Clinical
features
The primary
lesions are small dermal papules 1-2 mm in diameter, yellowish-brown
and sometimes translucent, develop slowly and more or less
symmetrically in irregular groups in areas exposed to sunlight. They
feel soft and may release their gelatinous contents when punctured.
|
Fig. 304. Milia
|
In older
patients the papules are often fewer, larger and their potential
distribution is much wider, although often only one or two sites are
involved in each individual.
Treatment
CO2 laser
ablation of the extensive lesions may give better cosmetic results.
Superficial resurfacing by Co2 laser using topical anaesthetics as
Emla creams
Dermabrasion,
diathermy and cryotherapy, can also give good results.
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