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Incontinencia pigmenti (IP2): Informe de un caso familiar con varones afectados. Re- visión de la literatura. Incontinentia pigmenti (IP2): Familiar case report with. PDF | Incontinentia pigmenti (IP) is a rare genodermatosis linked to the X chromosome. It affects variably all tissues derives from neuroecthoderm such as skin. PDF | On Apr 1, , F. Cammarata-Scalisi and others published pigmenti. Resumen. La. incontinencia. pigmenti. (síndrome. de.

Incontinencia Pigmentaria Pdf

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Download PDF Incontinencia pigmenti con defecto en la inmunidad celular Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome is a rare multisystem. Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues be affected, such. Full text is only aviable in PDF. Bibliografía. [1.] I. Tanboga, B. Kargul, S. Ergeneli, M.Y. Aydin, M. Atasu. Clinical features of incontinentia pigmenti with emphasis.

Russian Journal of Skin and Venereal Diseases ; 5: 7.

Incon-tinencia pigmenti. Bloch B.

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Sulzberger MB. Uber eine bishernight beschriebene con-genitale Pigmentanomalie Incontinentia Pigmenti. Arch Derm Syph Berlin ; Atlas of Dermatology. Bloch — Sulzberger syndrome clinical and immunopatho-logical observation. Clinical Dermatology and Venereology. Sukolin Gl.

Clinic hereditary dermatoses.

Bloch — Sulzberger syndrome

Clinicfl Study of 40 Cases of Incontinentia Pigmenti. A rare cause of neonatal seizure: Incontinentia Pigmenti. The Turkish J of Pedi-atriics ; Landy SJ, Donnal D. Incontinencia pigmenti Bloch — Sulzberger syndrome.

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Due to poor clinical evolution and persistence of fever, she was transferred to the Hospital Infantil de Mexico Federico Gomez in Mexico City. At the time of her admission she was in poor general condition. On physical examination there was tissue hypoperfusion.

The skin was hard and of cardboard consistency, showing generalized hyperpigmentation predominantly in the face and chest and genitalia without signs of virilization or macro-genitosomia. There was spasticity of the extremities Figure 1. Figure 1 Hiperpigmentation in face, trunk, and extremities with scaly formation.

Initial laboratory examinations showed hemoglobin 7. Arterial blood gas showed pH 7. The patient was initially managed according to the protocol of nosocomial sepsis with pneumonia with the administration of i.

Also, due to skin hyperpigmentation with shock and hyponatremia she was managed as an adrenal crisis, probably secondary to congenital adrenal hyperplasia. However, ACTH levels of Lumbar puncture was done and cytochemical analysis of the cerebrospinal fluid CSF was normal. Initial blood culture was positive for Klebsiella pneumoniae with multiple sensitivities. Ophthalmological examination showed normal fundus of the eye and left corneal leukoma. EEG study showed generalized slow activity in delta polypoint range and intermixed sharp waves in the right hemisphere.

Skull CT showed increase of the subarachnoid space frontally. Cerebral parenchyma was demonstrated with adequate gray-white matter ratio without space-occupying lesions.

Hyperintensity at the level of the basal ganglia and thalamus was seen, compatible with bleed or brain infarct. Nuclear magnetic resonance NMR of the skull with contrast showed hypointense images in the basal nuclei in T1 and T2 sequences. There was thinning of the corpus callosum in all its segments and generalized widening of the subarachnoid space. Serum immunoglobulins were IgA There was a low population of lymphocytes demonstrated by flow cytometry in peripheral blood Table 2.

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The last blood count showed hemoglobin 9. Alopecia in the frontal region up to the vertex was also observed Figure 3 and was managed with moisturizers and emollient creams. Figure 2 Blisters and desquamation. Figure 3 Frontal alopecia. Skin biopsy reported skin with hyperkeratosis and focal parakeratosis.

The rest of the epidermis showed dyskeratosis, exocytosis of lymphocytes and neutrophils and formation of intraepidermal vesicles Figure 4. Band infiltrate consisting of lymphocytes and melanophages with pigment was observed in the junction of the epidermal and papillary dermis Figure 5.

The reticular dermis and subcutaneous tissue showed no alterations. Figure 4 A Intraepidermal vesicle and output of pigment to the papillary dermis.

B Intraepidermal vesicle. Figure 5 Panoramic cut of the skin, dermal-epidermal junction with melanophages and output of pigment to the papillary dermis and changes in the stratum corneum of the epidermis.

Final diagnosis Incontienentia pigmenti phase III. Subsequently the patient had a torpid evolution. Hemo-dynamic and respiratory instability persisted as well as persistence of seizures, sepsis and amine-refractory septic shock.

Incontinentia pigmenti

Antibiotic scheme was updated to meropenem, vankomycin and amphotericin B. However, despite intensive care and opportune updating of the antibiotic scheme, the patient developed multiple organ failure syndrome with renal insufficiency, acute liver failure, abdominal compartment syndrome, acute respiratory distress syndrome ARDS and disseminated intravascular coagulopathy DIC.

Refractory hypotension and metabolic acidosis persisted along with prolonged capillary refill, weak pulses and bradycardia, which led to irreversible cardiorespiratory arrest. Discussion This is the case of a female infant with a clinical picture compatible with severe IP, which initiated neonatally with skin, neurological and immunological involvement.

Other causes of neonatal pemphigoid erythema were ruled out such as infections due to herpes simplex virus and congenital syphilis as well as other alterations of skin pigmentation such as hyperpigmentation secondary to congenital adrenal hyperplasia caused by the crossed reactivity of the adrenocorticotropin hormone ACTH with receptors for melanocyte-stimulating hormone MSH —and the benign transitory hyperpigmentation where there is no involvement of the skin appendages.

Diagnosis of IP was confirmed with histo-pathological study of the skin biopsy. This patient presented serious neurological condition related with anomaly of brain development and disorders in neuronal migration with hypoplasia of the corpus callosum along with vascular phenomena with ischemia and bleeding. This developed early, with difficult to control seizures accompanied by progressive neurological deterioration, which complicated her clinical condition. However, it should be mentioned that although in other cases of IP the common association of neurological changes with ophthalmological involvement has been reported, in this patient the only eye alteration detected was corneal leukoma.

It was considered that pulmonary arterial hypertension manifested by the increase of systolic pressure in the right ventricle was due to the severe lung condition secondary to pneumonia. However, this case illustrates how the diagnosis of this disease can be suspected in female infants who present to pediatric hospitals in poor general condition with sepsis and state of shock and who present at least one of the major diagnostic criteria for the disease such as vesicular exanthema, skin hyperpigmentation, Blaschko lines, verrucous plaques and frontal alopecia as well as the presence of some minor diagnostic criteria proposed by Landy and Donnai.

No tests were carried out on the integrity and functioning of the interleukin axis. This allows us to infer that the patient had severe alterations both of cellular as well as humoral immunity. Based on the fact that the treatments proposed for this rare disease IV gamma globulin and gamma-interferon are expensive and inaccessible in our environment, it is believed that the possibility of offering timely treatment to IP patients will depend on establishing an early confirmatory diagnosis.

This is in addition to the vital support in intensive care units of the seriously ill and unstable patient as well as the multidisciplinary approach and treatment of the infectious, neurological and ophthalmological changes. The authors declare that no experiments were performed on humans or animals for this investigation.Incontinencia pigmenti con defecto en la inmunidad celular.

Abstract Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients.

It has been suggested that ophthalmologic and neurological alterations are secondary to a microangiopathic process with secondary ischemia at a time of high vulnerability of the newborn and that the eosinophilic degranulation secondary to the activation of eotaxin causes direct tissue damage.

Due to poor clinical evolution and persistence of fever, she was transferred to the Hospital Infantil de Mexico Federico Gomez in Mexico City. However, the disease was clinically characterized in by Bardach, Bloch, Siemens and Sulzberger, although only the names of Bloch and Sulzberger appear in the eponym of the disease.

This article has been cited by other articles in PMC. Erythematous, vesicular and occasionally pustular lesions especially in the extremities and trunk that generally appear from birth or during the first weeks of life, although in some cases these have developed in utero. Bol Med Hosp Infant Mex.

Bloch — Sulzberger syndrome clinical and immunopatho-logical observation. The authors declare that no experiments were performed on humans or animals for this investigation.