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Incontinentia pigmenti

Incontinentia Pigmenti (IP) is a genetic disorder that affects the skin, hair, teeth, and nails. It is also known as Bloch Sulzberger syndrome, Bloch Siemens syndrome, melanoblastosis cutis and naevus pigmentosus systematicus. more...

ICF syndrome
Ichthyosis vulgaris
Imperforate anus
Inborn error of metabolism
Incontinentia pigmenti
Infant respiratory...
Infantile spinal muscular...
Infective endocarditis
Inflammatory breast cancer
Inguinal hernia
Interstitial cystitis
Iodine deficiency
Irritable bowel syndrome

The skin lesions evolve through characteristic stages:

  1. blistering (from birth to about four months of age),
  2. a wart-like rash (for several months),
  3. swirling macular hyperpigmentation (from about six months of age into adulthood), followed by
  4. linear hypopigmentation.

Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Some patients have retinal vascular abnormalities predisposing to retinal detachment in early childhood. Cognitive delays/mental retardation are occasionally seen.

The diagnosis of IP is established by clinical findings and occasionally by corroborative skin biopsy. Molecular genetic testing of the IKBKG gene (chromosomal locus Xq28) reveals disease-causing mutations in about 80% of probands. Such testing is available clinically. In addition, females with IP have skewed X-chromosome inactivation; testing for this can be used to support the diagnosis.

IP is inherited in an X-linked dominant manner. IP is lethal in most, but not all, males. A female with IP may have inherited the IKBKG mutation from either parent or have a new gene mutation. Parents may either be clinically affected or have germline mosaicism. Affected women have a 50% risk of transmitting the mutant IKBKG allele at conception; however, most affected male conceptuses miscarry. Thus, the expected ratio for liveborn children is 33% unaffected females, 33% affected females, and 33% unaffected males. Genetic counseling and prenatal testing is available.

This disorder was first reported by Bruno Bloch, a German dermatologist in 1926 and Marion Sulzberger, an American dermatologist in 1928.


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Skin clues to medical emergencies
From American Family Physician, 3/1/90 by Diane Wishnow Inserra

Skin Clues to MEdical Emergencies

In a medical emergency, diagnosis often must be made rapidly so that lifesaving therapy can be instituted immediately. The skin may provide visible clus that will lead the observant physician to the correct diagnosis. A thorough examination of the skin can be performed quickly and requires no special equipment, other than adequate lighting. This article discusses various dermatologic lesions that may suggest the etiology of common emergencies.


Coma may be caused by a variety of metabolic, infectious and toxic disturbances, many of which produce cutaneous clues. Coma may be presumed to be a complication of diabetes in a patient who presents with hyperpigmented atrophic macules on the shins (Figure 1), intertriginous candidiasis or erythrasma, localised fat atrophy or, less commonly, the pink or yellow atophic plaques of necrobiosis lipoidica diabeticorum (Figure 2). Occasionally, a patient in a diabetic coma may have the red-haloed yellow papules of eruptive xanthomatosis (Figure 3), a manifestation of the hypertriglyceridemia that may accompany poorly controlled diabetes.

A sallow yellow complexion (due to anemia and retained urochromes) accompanied by the fine white powder of uremic frost might indicate that coma is secondary to severe uremia. Hepatic coma may be associated with spider angiomata, dilated periumbilical veins, palmar erythema and jaundice. When cirrhosis is due to hemochromatosis, the skin has a sltegray-to-bronze discoloration.

Myxedema coma should be considered in a patient with classic signs of myxedema, including periorbital swelling, enlarged tongue, pale, cool, dry skin and loss of the lateral eyebrows (Figure 4). Paradoxically, thyrotoxicosis can also lead to coma, although this rarely occurs. [1] Thyrotoxicosis should be considered in a comatose patient with moist, warm skin, distal separation of the nails from the nail beds, and localized or pretibial myxedema.

Several viral infections associated with encephalitic coma may be accompanied by cutaneous manifestations. Varicella encephalitis may be the cause of coma in patient with the characteristic lesions in all stages of development. Varicella zoster in particular is a likely cause of encephalitis in immunocompromised patients. However, herpes simplex virus is responsible for more cases of nonepidemic, sporadic encephalitis than any other virus. [2] Clinical evidence of mucocutaneous herpes simplex virus may confirm the diagnosis.

The appearance of the skin may provide clues to toxic causes of coma. A characteristic cherry red discoloration of the skin is foten the first clue to carbon monoxide poisoning. Encephalopathy secondary to chronic lead intoxication should be suspected in a child with darkened discoloration of the gingival margins. Intravenous drug overdose is a likely cause of coma in patients with track marks and skin that is tattooed with carbon particles from the use of flamed needles. Phenytoin hypersensitivity syndrome should be considered in a patient who develops a morbilliform eruption that becomes confluent on the face and is associated with marked periorbital edema. Occurring several weeks after the initiation of phenytoin therapy, this unusual reaction may lead to hepatic coma. [3]

Fractues of the base of the skull are often accompanied by delayed ecchymosis over the mastoid process (Battle's sign), as well as periorbital ecchymosis (raccoon sign). Because routine radiographic examination may fail to disclose basilar fractures, they should be suspected when these clinical signs are present.


The common embryologic origin of skin and nervous tissue from fetal ectoderm explains the dermatolotic manifestations of conditions that cause seizures. When examination of the skin reveals facial angiofibromas (Figure 5), hypopigmented ash leaf spots, shagreen patches or periungual fibromas, seizures may be due to the sclerotic and calcified corticla lesions of tuberous sclerosis. In a patient who displays cafe-au-lait spots, neurofibromas and pigmented iris hamartomas (Lisch nodules), convulsions may be a manifestation of von Recklinghausen's disease.

Sturge-Weber syndrome is a diagnostic consideration in a child who presents with seizures and a unilateral port-wine angioma in the distribution of the ophthalmic division of the trigeminal nerve (Figure 6). Clusters of dark red angiokeratomas in a swimsuit distribution on a male patient suggest Fabry's disease. A young girl with seizures accompanied by macular or verrcous hyperpigmentation in a whorled, spidery or flecked pattern on the trunk may have incontinentia pigmenti. Seizures and neuropathy in a child with pigmentary dilution of the hair, skin and eyes may be attributed to Chediak-Higashi syndrome.

In a female patient presenting with sizures, systemic lupus erythematosus may be considered if the characteristic malar rash (Figure 7) or discoid lesions (Figure 8) are present. Lipoid proteinosis may be the diagnosis in a patient with seizures, papular lesions at the angles of the mouth and eyelid margins, knobby skin (like the surface of a citrus fruit), a hoarse voice and difficulty protruding the tongue.

Chemical intoxication must always be considered in the patient with seizures of unknown etiology. When the stigmata of chronic alcoholism are present, seizures might be due to a variety of factors, including alcoholic withdrawal, an old traumatic cerebral contusion and chronic subdural hematoma, as well as metabolic derangements of malnutrition and liver disease.

In a patient with body or limb asymmetry indicative of hypotrophic somatic development chronic seizures may be due to a congenital or infantile cerebral lesion. Similarly, ginival hyperplasia associated with phenytoin therapy could indicate that a patient's seizures are chronic in nature.


A number of cutaneous findings can assist the physician in rapid evaluation of the patient who presents in shock. The clinical constellation of hypotension, fever and desquamation following a scarlatiniform eruption may be assocaited with toxic shock syndrome. A widespread petechial or purpuric eruption in a hypotensive patient suggests fulminating meningococcemia and Waterhouse-Friderichsen syndrome. Infarcts in the skin may be a sign of both acute and chronic septicemia. Infarcts may appear as irregularly shaped macules, slightly depressed below the plane of the skin, surrounded by a pink zone of hyperemia.

The characteristic lesions of ecthyma gangrenosum may be a clue to systemic Pseudomonas or Aeromona infection (Figure 9). If a fluorescein-producing strain of Pseudomonas is the culprit, examination under the Wood's light will suggest the presence of these organisms in the lesions. In a child with sepsis and disseminated intravascular coagulation, large symmetric ecchymoses on the lower extremities may signify purpura fulminanans. This syndrome most typically occurs two to four weeks after a streptococcal or viral infection. [4] However, it may also occur without antecedent infection, as the result of an acquired or congenital deficiency of protein C. [5]

The physician should consider Rocky Mountain spotted fever in a patient who presents with shock and reports a history of fever and rash that began on the wrists and ankles and progressed centripetally. However, the characteristic petechial rash may be absent in up to 10 percent of adult patients. [6] Thus, Rocky Mountain spotted fever should also be considered in any adult with an acute febrile illness who lives in an endemic area or has visited the area during the summer months.

Perhaps the first and most obvious signs of anphylactic shock are acute diffuse urticaria and the subcutaneous swelling of angioedema. Although the initiating event may not influence treatment, the patient should be questioned about insect stings, medications, allergy shots and recent ingestion of foods containing metabisulfite preservatives. [7]

An addisonian crisis should be suspected in a patient presenting with shock accompanied by generalized hyperpigmentation and bluish gray patches on the oral mucosa. Acute hypoadrenal crisis is also a consideration in a patient who displays cushingoid features secondary to chronic steroid therapy, particularly following recent withdrawal of steroid therapy. Anhidrotic ectodermal dysplasia may be the diagnosis in a young boy with warm, dry skin, signs of heat stroke and distinctive features such as saddle nose, large ears and lips, sparse hair and abnormal dentition.

Chest Pain

There is little relationship between the severity of chest pain and the gravity of its cause. Thus, trivial disorders may be difficult to distinguish from more serious problems. Certain skin findings may be helpful in making this important determination.

Chest pain in a patient with an indurated tender calf and superficial venous engorgement may be cuased by a pulmonary embolus secondary to deep venous thrombosis. A patient with chest pain and xanthomas may have an acute coronary artery occlusion secondary to a hyperlipidemic state. The presence of pitting edema of dependent extremities may help confirm a diagnosis of congestive heart failure. Subcutaneous crepitus in a patient with tachypnea may signify pneumothorax. In a patient who reports progressive chest pain exacerbated by swallowing, subcutaneous crepitus may be the result of a ruptured esophagus.

Angina is common in patients with syphilitic aortitis; aortic regurgitation and ostial narrowing may lead to diminished myocardial blood flow. In addition, chronic obliterating endarteritis of the vasa vasorum may lead to focal weakening of the wall of the aorta and an acute dissecting aortic aneurysm. Skin findings in a patient with late syphilis include nodular and noduloulcerative lesions, gummas and pseudochancre redux.

Chest pain may indicate rheumatic carditis in a patient with a rapidly spreading gyrate eruption of erythema marginatum. A patient with petechial lesions, splinter hemorrhages under the nails and tender nodules on the palms, soles or finger pulps (Osler's nodes) may have other manifestations of subacute bacterial endocarditis. A patient with the acute form of this disease may also have nontender subcutaneous erythematous macules or papules on the finger pulps; these lesions mayb e ulcerative (Janeway lesions). Herpes zoster may be the cause of chest pain in a patient with a unilateral vesicular eruption limited to the dermatome of a spinal sensory ganglion (Figure 10).

Marfan syndrome should be considered in a patient with striae distensae in the pectoral and deltoid areas, characteristic spidery body habitus and symptoms consistent with an aortic aneurysm. In a patient with punctate, dark-red-to-blue-black superficial angiectases, acute cardiovascular complications of Fabry's disease might be suspected.


A number of dermatologic clues may aid the physician in identifying the cause of hemorrhage. When gastrointestinal hemorrhage is a possibility, some of the more obvious skin signs are caput medusae, spider nevi and jaundice, which suggest bleeding esophageal varices. When papular yellowish lesions are noted in the flexural areas and the skin is loose and thickened in a peau d' orange manner, the possibility of pseudoxanthoma elasticum should be considered. In this disease, gastrointestinal hemorrhage is often the initial complaint.

Unexplained respiratory, gastrointestinal or genitourinary hemorrhage warrants a search for the minute cutaneous vascular ectasias of Osler-Weber-Rendu disease. When examination of the skin reveals blue compressible rubber-bleb hemangiomatosis, bleeding is probably due to similar lesions in the gastrointestinal tract.

Distinctive dark blue or purple-brown nodules or plaques located primarily on the distal extremities are suggestive of Kaposi's sarcoma. Patients with Kaposi's sarcoma, particularly those with acquired immunodeficiency sydrome, may present with gastrointestinal bleeding from visceral involvement.

In an infant with a large hemangioma, as may occur in Klippel-Trenaunay-Weber syndrome (Figure 11), purpura and hemorrhage following minor trauma could be due

to the Kasabach-Merritt syndrome. [8] This process begins with coagulation and fibrin formation within the hemongioma and results in a consumption coagulopathy.

Post-transfusion purpura shoudl be suspected in a patient who develops mucosal bleeding and purpura shortly after a blood transfusion. This disorder is due to a platelet antigen mismatch, with the subsequent formation of antiplatelet isoantibodies. Early diagnosis and intervention can be lifesaving.

Other possible cultaneous signs in a patient with hemorrhage are the fang punctures of snake bite. The bite from a member of the pit viper family produces immediate pain, as well as wheal with local edema, numbness and, within moments, ecchymosis and painful lymphadenopathy. Bleeding of the gums and hematemesis are common hemorrhagic manifestations.

Respiratory Distress

When a patient presents in respiratory distress, skin findings may often be helpful in determining the etiology. Atopic dermatitis suggests that acute asthma is the cause of respiratory distress. In a aptient with asthma, diarrhea and generalized flushing, carcinoid syndrome is a possibility. Less commonly, asthma accompanied by purpura and subcutaneous nodules along the course of an artery suggests Chuurg-Strauss syndrome. [9]

In the patient with urticaria and angioneurotic edema, respiratory distress may be due to laryngeal edema and airway obstruction. Airway obstruction along with brawny induration of the submaxillary region, edema of the floor of the mouth and elevation of the tongue are seen in Ludwig's angina. The infectious process most commonly originates from apical abscesses of the second and third mandibular molars. Dyspnea from respiratory obstruction can develop within hours.

Pulmonary sarcoidosis should be suspected when the characteristic waxy or flesh-colored flat-topped papules are found on the face and extremities (Figure 12). The presence of periorificial papules, reddish purple plaques of lupus pernio and erythema nodosum also suggests sarcoidosis. Ulceration and nodular or papular plaques may be associated with deep mycoses and tuberculosis. In addition, ulceration of the nasal septum and widespread cutaneous vasculitis may signify Wegener's granulomatosis.

Opportunistic pulmonary infection should be considered in a patient who presents with respiratory distress accompanied by the dermatologic stigmata of AIDS (Kaposi's sarcoma, oral candidiasis, seborrheic dermatitis, fulminant herpes infection, herpes zoster, molluscum contagiosum, etc.). [10] Pneumocystis carinii pneumonia, pulmonary tuberculosis, Mycobacterium avium-intracellulare infection and pneumonitis secondary to disseminated candidiasis are among the possibilities. Pumonary involvement by Kaposi's sarcoma may also cause respiratory distress.

Cyanide poisoning should be suspected in a patient whose face and neck suddenly became livid, with a dark red discoloration extending over the arms and hands, accompanied by profuse diaphoresis. Calcium cyanide is used as a nitrogen carrier in fertilizers. Although moderate cutaneous contact causes only a primary irritation or allergic contract dermatitis, inhalation combined with alcohol ingestion may be followed by toxic manifestations.

A tick bite may be the etiology of respiratory distress in a patient who reports fatique, irritability and leg paresthesias, followed by an ascending paralysis. Thorough examination of the skin may reveal an engorged tick. With tick paralysis, death from respiratory failure may ensue if the tick is not removed.

Pulmonary fibrosis may be the cause of dyspnea in the patient with acrosclerosis, calcinosis cutis and the characteristic facies of scleroderma (Figures 13a and 13b). Respiratory distress may also accompany the cutaneous stigmata of acute bacterial endocarditis and pulmonary embolus, as previously described.

Although cyanosis is a rather nonspecific skin sign, the possibility of transposition of the great vessels should be suspected in any newborn who presents with cyanosis and techypnea. Signs of congestive heart failure are also present with this anomaly. Tetralogy of Fallot must be considered when episodes of profound cyanosis occur later in the first year of life and are accompanied by squatting behavior and hyperpnea. A neonate who demonstrates congenital heart block should be examoned for the typical cutaneous lesions of neonatal lupus. Infants born to mothers with lupus erythematosus may develop an annular, nonscarring erythematous eruption.

Acute Abdomen

Skin findings may be helpful in identifying the cause of acute abdominal pain. When examination of a patient with acute abdominal pain reveals multiple osteomas, lipomas and sebaceous cysts, Gardner's syndrome is a likely etiology. The sudden appearance of numerous pruritic seborrheic keratoses (Leser-Trelat sign) may also denote internal malignancy. In both instances, the patient may be suffering from bowel obstruction or perforation secondary to a malignant neoplasm. Melanin pigmentation of the lips could signify Peutz-Jeghers syndrome and possible intussusception caused by a benigh intestinal polyp.

Acute abdominal pain may be a manifestation of variegate porphyria and active hereditary coproporphyria, which may both result in photosensitivity with characteristic cutaneous lesions (Figure 14). When examination of the skin reveals atrophic porcelain white macules surrounded by a narrow telangiectatic and erythematous ring, Degos' disease is a possibility. With this condition, the abdominal pain is caused by necrotizing vasculitis of the gastrointestinal tract, similar to that occuring in the skin. A patient with the smooth, rubbery skin and hyperextensible joints of Ehlers-Danlos syndrome (Figure 15) may have abdominal pain from aneurysmal dilatation of the aorta or intestinal perforation.

Abdominal pain accompanied by an erysipelas-like erythema of the lower extremities in a patient of Sephardic or Armenian descent suggests a diagnosis of familial Mediterranean fever. Chronic punched-out ulcers around the ankles may signify an acute sickle cell crisis. A bright red, firm umbilical nodule that bleeds easily and secretes mucoid material may be found in an infant with a volvulus occuring around a persistent omphalomesenteric duct. [11]

Infectious causes of abdominal pain may also have skin manifestations. Gonorrheal salpingitis may be accompanied by hemorrhagic vesicopustules on the palms and fingers. Herpes zoster may be the cause of abdominal pain when crops of vesicles follow the distribution of one or more neurocutaneous segments.

Infection with Yersinia pestis should be suspected in any febrile patient with painful adenopathy and a history of wild animal exposure in a plague-endemic area. An eschar at the site of a flea bite and painful bubo strengthen the clinical suspicion of Y. pestis infection. When invasive amebiasis is the cause of abdominal pain, an ulcerated granuloma of the genitalia or perianal area, as well as generalized urticaria and pruritus, may be found. In such cases, abdominal pain may be the result of destruction of the colonic mucosa and submucosa, leading to perforation.

The black widow spider, infamous in outhouses for biting people on the buttocks and genitals, injects a neurotoxin that produces symptoms of acute abdomen. [12] Finding the minute fang marks of such a spider bite, along with a consistent history, might prove diagnostic.

Acute hemorrhagic pancreatitis may be the source of abdominal pain in a patient with periumbilical and flank ecchymosis (Cullen's sign and Grey Turner's sign, respectively), as well as subcutaneous fat necrosis (Figure 16). A bluish discoloration may also be seen about the umbilicus in a patient with a ruptured ectopic pregnancy. [11] Lead intoxication may be the source of abdominal pain in a child with lead lines on the gingiva.


An acutely psychotic patient may have cutaneous manifestations that explain the cause of the psychiatric symptoms. Psychotic behavior in a patient with discoid lesions or malar rash brings to mind lupus erythematosus, while severe dermatitis and chronic hyperpigmentation of sunexposed areas might suggest a diagnosis of pellagra. Blistering, scarring, milia and slate gray hyperpigmentation in sunexposed areas in a patient with facial hypertrichosis points to porphyria. When tendon xanthomas and cataracts accompany dementia, a diagnosis of cerebrotendinous xanthoma should be considered. In a patient with Behcet's syndrome, organic confusional states may be accompanied by oral and genital ulcers.

The gummas of a patient with syphilis or the gingival lead lines of a child with lead intoxication may also serve as valuable diagnostic clues in a patient with acute psychosis. When a patient exhibits cushingoid changes, steroid psychosis is a likely consideration. Munchausen syndrome may underlie psychiatric symptoms in a patient with an excessive number of surgical scars and dermatologic lesions in patterns that suggest self-inflicted wounds (Figure 17). The factitious lesions may show a sharp cut-off, may have a geometric pattern, may not be present in areas that the patient cannot reach and may be inconsistent with the patient's clinical history.

Final Comment

Skin examination should be included in the evaluation of every patient presenting with a medical emergency. The physician who makes use of this readily accessible and valuable information will be able to provide more rapid diagnosis and thus more immediate therapy to the patient.


[1.] Mullin GE, Eastern JS. Cutaneous consequences of accelerated thyroid function. Cutis 1986;37(2):109-14.

[2.] Whitely RJ. Herpes simplex virus infections of the central nervous system. A review. Am J Med 1988;85(2A):61-7.

[3.] Silverman AK, Fairley J, Wong RC. Cutaneous and immunologic reactions to phenytoin. J Am Acad Dermatol 1988;18(4 Pt 1):721-41.

[4.] Issacman SH, Heroman WM, Lightsey AL. Purpura fulminans following late-onset group B beta-hemolytic streptococcal sepsis. Am J Dis Child 1984;138:915-6.

[5.] Auletta MJ, Headington JT. Purpura fulminans. A cutaneous manifesttation of severe protein C deficiency. Arch Dermatol 1988;124:1387-91.

[6.] Westerman EL. Rocky Mountain spotless fever: a dilemma for the clinician. Arch Intern Med 1982;142:1106-7.

[7.] Bahna SL. Food sensitivity. Handling reactions to foods and food additives. Postgrad Med 1987;82(5):195-9,202-4,209.

[8.] Esterly NB. Kasabach-Merritt syndrome in infants. J Am Acad Dermatol 1983;8:504-13.

[9.] Fauci AS, Haynes B, Katz P. The spectrum of vasculitis: clinical, pathologic, immunologic and therapeutic considerations. Ann Intern Med 1978;89(5Pt 1):660-76.

[10.] Kaplan MH, Sadick N, McNutt NS, Meltzer M, Sarngadharan MG, Pahwa S. Dermatologic findings and manifestations of acquired immunodeficiency syndrome (AIDS). J Am Acad Dermatol 1987;16(3 Pt 1):485-506.

[11.] Powell FC, Su WP. Dermatoses of the umbilicus. Int J Dermatol 1988;27:150-6.

[12.] Maso MJ, Lin RY, Bagley MP, Cohen PJ, Schwartz RA. Immunopathological changes after multiple spider bites. Contact Dermatitis 1987;17(2:65-8.

COPYRIGHT 1990 American Academy of Family Physicians
COPYRIGHT 2004 Gale Group

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