are metabolic by-products, that have not followed the usual
synthesis from glycine and succinyl co-enzyme A to heme with
production of Porphobilinogen and aminolevulinic acid. Different
factors such as drugs , chemicals and hormones can increase
The site of
disturbance is either in the liver (hepatic porphyria) or in the
bone marrow in the erythroid cells (erythropietic porphyria ).
porphyria, this includes:
due to bone marrow disturbance :
erythropoietic porphyria (Gunther‘s disease )
manifestations are due to abnormal Porphyrins metabolism. Drugs such
as barbiturates, sulfonamides, chloramphenicol, chloroquine,
griseofulvin and toxins, fungicides (hexachlorobenzene), may cause
types of porphyria can cause different skin , hair and nail
The skin is
fragile, tear easily and forming blisters due to dermo epidermal
like reaction in the form of pigmentation , atrophy and
telengectasia on sun exposed areas.
and scarring after healing.
is not a common manifestation of porphyria cutanea tarda.
are sensitive to sunlight even when they are indoors. Patients are
labile to have phototoxic reactions.
cirrhosis, hemochromatosis, carcinomas and Hodgkin‘s disease may
be associated with porphyria cutanea tarda.
a pinkish coral red fluorescence under Wood‘s light .
Porphyrins in urine and feces .
procedure (devised by Castro): Disposable plastic column charged
with anion exchange resin, permits detection of various porphyrins
as well as their precursors.
Porphyria Cutanea Tarda
This is a
rare type, which is carried as a dominant gene and appears at early
age around 15 years of age.
500ml of blood every two weeks. Usually 3000-5000 ml of blood is
taken . Involution of skin lesions usually appear after the second
blood intake .
500mg twice weekly for the adult age are believed to have an
bicarbonate: used to
alkalinize urine may have a beneficial effect.
This type is
characterized by periodic attacks of abdominal colic,
gastrointestinal disturbances, paralysis and psychiatric
is not a feature of this type .
manifestations include those of porphyria cutanea tarda and acute
intermittent porphyria but occurring in earlier age groups.
causes polymorphous light eruption leading to pruritic, erythematous
papulo vesicular and urticarial rashes mainly on the sun-exposed
areas. Skin lesions heal leaving linear pitted scars .Other
manifestations are purpura , oedema and severe burning pain.
appears early in childhood from 2-5 years of age and inherited as a
dominant trait. Photosensitization is a characteristic feature of
erythropoietic protoporphyria . In this type it is believed to be
due to the longer wavelengths of ultraviolet (UVL) which ranges
from 320-450nm. Ordinary window glass offers no protection from the
effect of sun on such patients.
are pruritic erythematous, plaque-like edema, wheals and even
vesicles or bullae on the sun exposed areas. The skin lesions may
heal with scarring with waxy thickening of the nose, cheeks, over
the proximal finger joints, circumoral atrophy and scarring.
proto-and coproporphyrins in feces.
porphyrins in red blood cells .
microscopic examination of blood : Few drops of blood are diluted
1:5 with normal saline are placed on a microscopic slide and
examined by the oil immersion objective of a fluorescent microscope.
usually show characteristic fluorescence.
It should be
noted that in this type of porphyria , urine usually does not give
fluorescence under the Wood‘s light .
This type is
a hereditary disease, transmitted by an autosomal recessive gene.
manifestations appear early in infancy on the sun-exposed areas that
are due to photosensitivity. Painful bullous lesions, which heal by
destructive and disfiguring scarring and causing destruction of the
cartilage of the nose, ears, and nails.
with hair on the cheeks, profuse eyebrows, and long eyelashes
high amount of copro and uropophyrines.
erythropietic porphyria has the following characteristics that are
diagnostic even in early infancy:
Red urine in
early infancy .
of both deciduous and permanent teeth.
fluorescence of the teeth when exposed to Wood‘s light.
affects children with blond hair, blue eyes and fair skin due to
lack of the enzyme phenylalanine hydroxylase, which is essential for
degradation of phenylalanine to tyrosine.
infections are common.
of thighs and buttocks are common manifestations in affected infants
phenyl pyruvic acid in urine. This can be easily detected by adding
to urine few drops of ferric chloride solution that will give deep
for infants and young children containing low phenylalanine and this
should be given immediately after birth.
This is a
hereditary disease transmitted as an autosomal recessive gene, due
to enzymatic defect in the metabolism of tyrosine and phenylalanin.
which becomes later black due to increased homogentisic acid
secretion in urine.
of brown-black pigment in the connective tissue.
In older age
groups the manifestations are:
of the sclera, which is an early sign.
of pigment in the cartilage of the ears, nose and tendons of the
extremities which may show blue, mottled brown macules.
organs mainly great vessels, valves and larynx, genitalia may be
also involved .
affecting the spinal joints , hips ,knees and shoulders.
is accumulation of lipids in association of foam cells in the
palpebrarum: this is
the most common type of xanthomas affecting any age. Middle age women
are the commonest to have this problem especially those who have
biliary diseases. The lesions are yellowish plaques on the eyelids,
which may coalesce to form large plaques.
yellowish, raised papules, symmetrically distributed mainly on the
eyelids sides of the neck and palms.
papules appear on the extensor surfaces of the limbs, joints and
buttocks surrounded by a rim of erythema and may be tender. Eruptive
xanthoma is associated by increased serum triglycerides .
yellowish lesions appear on the tendons on the extensor surface due
to cholesterol infiltration.
symmetrical nodular lesions, appear over the extensor surface of the
joints and accompanied by increased serum triglycerides and
syndrome is a genetic disorder of lipid metabolism.
and cutaneous features characterize this syndrome.
underlying abnormality is a deficiency in phytanic acid, displacing
unsaturated fatty acids as linolenic acid from tissue lipids.
mainly dryness of the skin, which simulate icthyosis vulgaris.
early in childhood similar to retinitis pigmentosa with different
neurological (polyneuropathy), ataxia, cardiac and bone
occur, including deafness, cerebellar degeneration, polyneuropathy,
and retinitis pigmentosa and cardiac abnormalities.
syndrome can be diagnosed by lipid analysis of the blood or the
skin. Normally no or very little phytanic acid is found in the blood
a phytanic acid-free diet, in which green vegetables and dairy
products are excluded, has been used. Plasma exchange in conjunction
AMINO - ACIDS METABOLISM
changes are recessively transmitted error of metabolism of amino
acids leading to different skin manifestations. The skin
manifestations depend on the specific amino-acid metabolism
syndrome is due to deficiency in homogentisic acid oxidase leading
to accumulation of homogentisic acid that can be detected in urine.
life: dark urine and
of spines and knees due to chondreal cartilage thickening.
In older age
groups the skin of
forehead, ears, cheeks and around the eyes is pigmented.
of the sclera.
is due to disorder in methionin metabolism due to an absence of
hepatic cystathione synthetase causing abnormality in collagen
manifestations appear early, in the first year of life.
yellowish skin and atrophic scars.
hair, which brittles easily due to disulfide bond reduction.
clotting leading to livedo reticularis.
Diet low in
by pyridoxine and cysteine may give good improvement.
of metabolism of tryptophane leads to nicotinic acid deficiency.
occur early in infancy due to unabsorbed tryptophene, which is
broken into the gut to indoles that is absorbed, metabolized and
excreted in urine as indican.
like pellagra in the form of dry, scaly and sharply demarcated rash on
the sun-exposed areas.
ataxia and mental retardation.
manifestations, ataxia and mental disturbances.
examination shows increase in indican and monocarboxylic amino acid.
skin manifestations by emollients and keratolytics as topical
salicylic acid in an ointment base alone or in combination with
and avoiding too much exposure to sunlight.
metabolic disorders are due to a defect in specific enzymes leading
to accumulation of intermediary metabolic products in lysosomal
syndromes include Hurler‘s syndrome, Chediak-Higash syndrome and
appears early in infancy in the first months of life.
manifestations are brown, scaly papules on the seborrheic areas on
the scalp, behind the ears, naso-labial folds and mid chest.
manifestations include purpura, systemic histiocytosis and
die in the first two years from infections mainly due to pneumonia.
not always curative.
for pulmonary infections.
blood transfusion can be tried.
This is a
rare X linked recessive trait storage disorder leading to
accumulation of ceramide trihexose in the tissues mainly in the
endothelium of smooth muscles and blood vessels.
syndrome has complex skin and systemic manifestations.
manifestations begin to appear in the adult age in the form of dark
blue or black lesions mainly on the back, abdomen, buttocks,
umbilicus and mouth.
manifestations appear early in childhood in the form of weakness,
malaise, cramps. In adult age, there is vague symptoms as fever
after exercise with decreased sweating, neurological and
psychological episodes and severe pain of the feet and hands.
even fatal complications in older age groups are due to cardiac,
renal and cerebrospinal accidents.
these syndromes are genetic diseases due to error of metabolism of
mucopolysaccharides leading to greatly thickening of the skin due to
deposit of mucopolysaccharides in tissues limiting joint movements.
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