Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature

AbstractIncontinentia pigmenti (IP) or Bloch–Sulzberger’s disease is a rare neurocutaneous syndrome with dermatological, neurologic, and systemic manifestations including retinal, dental and hair abnormalities. It follows X-linked dominant inheritance and predominantly affects female children. The characteristic evolution of skin lesions in four stages is a hallmark diagnostic feature of the disease. The pigmented lesions of IP are usually distributed in linear streaks, macular whorls, reticulated patches, and flecks along the Blaschko lines. Neurologic morbidities are found in a considerable proportion of affected children, and the spectrum includes seizures, neuromotor impairment, microcephaly, developmental delay, and intellectual disability. Seizures are reported in 10% to 25% of children with IP in various previous clinical studies. The majority of these children had seizures in the neonatal period or early infancy, and focal–clonic seizure is the commonest observed semiology. However, there are only a few case reports of infants with IP with epileptic spasms. In this report, the clinical course of a 6-month-old girl with IP and epileptic spasms has been described, who responded favorably to treatment with adrenocorticotropic hormone injection. Clinicians managing children with IP should be aware of their predisposition to develop epileptic spasms and consider neuroimaging, electroencephalogram, and other investigations accordingly.

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THE RELATIONSHIP OF DERMATITIS HERPETIFORMIS TO INCONTINENTIA PIGMENTI IN NEWBORN INFANTS

PEDIATRICS ◽

10.1542/peds.29.2.295 ◽

1962 ◽

Vol 29 (2) ◽

pp. 295-302

Author(s):

Bertil Palmgren

Keyword(s):

Herpes Simplex ◽

Dermatitis Herpetiformis ◽

Neutralization Test ◽

Newborn Infants ◽

Skin Lesions ◽

Incontinentia Pigmenti ◽

Clinical Stages ◽

Simplex Virus ◽

Relationship Of ◽

The Relationship

A description is given of incontinentia pigmenti, with special reference to the various clinical stages and the theories of the causes of the condition. One case seen in a girl is described. The case was characterized by a very severe vesicular stage and marked eosinophilia in the blood as well as in the skin lesions. Herpes simplex virus could be regularly demonstrated in fluid from fresh vesicles. The neutralization test for herpes simplex showed no increase in the antibody titer of the patient, while during the following months an increase in titer was noted in the mother. At 2 years of age the child was normally developed, apart from a somewhat retarded eruption of the decidous teeth.

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SWEET SYNDROME AND HASHIMOTO THYROIDITIS: A CASE REPORT AND REVIEW OF THE LITERATURE

AACE Clinical Case Reports ◽

10.4158/accr-2019-0579 ◽

2020 ◽

Vol 6 (4) ◽

pp. e179-e182

Author(s):

Jacob Goodwin ◽

Samuel Ives ◽

Hiba Hashmi

Keyword(s):

Thyroid Dysfunction ◽

Case Reports ◽

Hashimoto Thyroiditis ◽

Skin Lesions ◽

Thyroid Stimulating Hormone ◽

Disease Stage ◽

Thyroid Peroxidase ◽

Thyroid Function Tests ◽

Sweet Syndrome ◽

Pubmed Database

Objective: Sweet syndrome (SS) is characterized by an inflammatory rash that has been associated with a number of drugs and malignant, inflammatory, and infectious conditions. Rare accounts of Hashimoto thyroiditis (HT) presenting with SS exist in the literature. HT is usually identified after the onset of skin lesions and without signs of overt thyroid dysfunction, and the stage of thyroid disease stage at presentation is variable. Methods: A search of the PubMed database was performed using search criteria involving combinations of “Sweet syndrome” and “Hashimoto thyroiditis,” “autoimmune thyroiditis,” or “thyroiditis,” and the search was filtered for clinical case reports. Five case reports were identified to describe the coexistence of Sweet syndrome and Hashimoto thyroiditis, and full-text versions of these reports were obtained and reviewed. Of note, cases involving subacute or other types of thyroiditis were excluded. Results: A 57-year-old man presented with painful eruptions on his hands; he was initially treated with antibiotics for presumed cellulitis without relief. Skin biopsy later confirmed SS and subsequent workup identified underlying HT with an elevated thyroid-stimulating hormone of 19.24 mU/L (normal, 0.30 to 4.30 mU/L) and positive thyroid peroxidase (TPO) antibody at 236.4 IU/mL. Conclusion: Thyroid function tests should be universally evaluated in the workup of SS, and it may be appropriate to test for TPO antibodies even in the absence of objective thyroid dysfunction. Both SS and HT show immune diathesis, so further work should be undertaken to establish whether a common immunologic trigger exists.

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Development and Validation of a Diagnostic 35-Gene Expression Profile Test for Ambiguous or Difficult-to-Diagnose Suspicious Pigmented Skin Lesions

SKIN The Journal of Cutaneous Medicine ◽

10.25251/skin.4.6.3 ◽

2020 ◽

Vol 4 (6) ◽

pp. 506-522

Author(s):

Sarah Estrada ◽

Jeffrey Shackelton ◽

Nathan Cleaver ◽

Natalie Depcik-Smith ◽

Clay Cockerell ◽

...

Keyword(s):

Gene Expression ◽

Gene Expression Profile ◽

Expression Profile ◽

Predictive Value ◽

Gene Selection ◽

Skin Lesions ◽

Neural Network Modeling ◽

Intermediate Risk ◽

Pigmented Lesions ◽

Development And Validation

Purpose: A clinical hurdle for dermatopathology is the accurate diagnosis of melanocytic neoplasms. While histopathologic assessment is frequently sufficient, high rates of diagnostic discordance are reported. The development and validation of a 35-gene expression profile (35-GEP) test that accurately differentiates benign and malignant pigmented lesions is described. Methods: Lesion samples were reviewed by at least three independent dermatopathologists and included in the study if 2/3 or 3/3 diagnoses were concordant. Diagnostic utility of 76 genes was assessed with quantitative RT-PCR; neural network modeling and cross-validation were utilized for diagnostic gene selection using 200 benign nevi and 216 melanomas for training. To reflect the complex biology of melanocytic neoplasia, the 35-GEP test was developed to include an intermediate-risk zone. Results: Validation of the 35-GEP was performed in an independent set of 273 benign and 230 malignant lesions. The test demonstrated 99.1% sensitivity, 94.3% specificity, 93.6% positive predictive value and 99.2% negative predictive value. 96.4% of cases received a differential result and 3.6% had intermediate-risk. Conclusions: The 35-GEP test was developed to refine diagnoses of melanocytic neoplasms by providing clinicians with an objective tool. A test with these accuracy metrics could alleviate uncertainty in difficult-to-diagnose lesions leading to decreased unnecessary procedures while appropriately identifying at-risk patients.

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Incontinentia Pigmenti and Bipolar Aphthosis: An Unusual Combination

ISRN Dermatology ◽

10.5402/2011/814186 ◽

2011 ◽

Vol 2011 ◽

pp. 1-3 ◽

Cited By ~ 1

Author(s):

G. Márquez Balbás ◽

M. A. González-Enseñat ◽

A. Vicente ◽

L. Creus-Vila ◽

J. Antón ◽

...

Keyword(s):

Skin Eruption ◽

Skin Lesions ◽

In Utero ◽

Incontinentia Pigmenti ◽

Multisystem Disorder ◽

Cutaneous Manifestations ◽

Vascular Abnormalities ◽

Unusual Combination ◽

Lines Of Blaschko ◽

Genital Ulcers

Incontinentia pigmenti (IP) is an uncommon X-linked dominant multisystem disorder, lethal in the majority of affected males in utero and variably expressed in females. The cutaneous manifestations are diagnostic and classically occur in four stages: vesicular, verrucous, hyperpigmented, and atrophic. The skin lesions are typically spread along the lines of Blaschko, and they are usually present at birth. It may be variably accompanied by dental, ocular, neurologic, bones and joints, and development anomalies. The genes IP has been mapped to Xq28. Mutations in the NEMO/IKKγ gene, located at Xq28, have been found to cause expression of the disease. Behçets disease is a multisystem disorder consisting of recurrent oral aphtae, genital ulcers, pustular skin eruption, and uveitis. Occasionally there are other articular, neurological, intestinal, or vascular abnormalities. This disease is rare in children. Here, we report a case of a 16-year-old female with the rare combination of incontinentia pigmenti and an aphthosis bipolar, and we discuss the probably relationship between these two diseases.

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Painless Livedoid Vasculopathy in a Patient with G20210A Prothrombin Gene Mutation

Case Reports in Medicine ◽

10.1155/2012/910231 ◽

2012 ◽

Vol 2012 ◽

pp. 1-5 ◽

Cited By ~ 3

Author(s):

Aibek E. Mirrakhimov ◽

Erwin Velasquez Kho ◽

Alaa Ali

Keyword(s):

Physical Examination ◽

Gene Mutation ◽

Case Reports ◽

Arterial Disease ◽

Skin Lesions ◽

Livedoid Vasculopathy ◽

Prothrombin Gene Mutation ◽

Prothrombin Gene ◽

Work Up ◽

Caucasian Female

87 year old Caucasian female with chronic painless non-healing ulcers over malleoli was admitted to the hospital. On a physical examination, there were two bilateral and laterally located malleoli ulcers with no discharge. A thorough work up was done: lower extremities venous and arterial Doppler ultrasound did not show any evidence of venous and arterial disease respectively. Heterozygous G20210A Prothrombin gene mutation was found, and the patient was started on anticoagulation. This case reports highlights a possibility of a painless livedoid vasculopathy presentation in a patient without significant past thrombotic events. Therefore, it is important to consider livedoid vasculopathy in the differential in a patient with painless ulcerative, atrophic and/or nodular skin lesions over the shins and malleoli.

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Lesion in Scalp and Skull as the First Manifestation of Hepatocellular Carcinoma

Case Reports in Neurological Medicine ◽

10.1155/2016/2897048 ◽

2016 ◽

Vol 2016 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

V. R. Ferraz ◽

J. L. Vitorino-Araújo ◽

L. Sementilli ◽

J. F. Neto ◽

J. C. E. Veiga

Keyword(s):

Hepatocellular Carcinoma ◽

Case Reports ◽

Superficial Temporal Artery ◽

Temporal Artery ◽

Skin Lesions ◽

Hepatocellular Injury ◽

En Bloc ◽

Common Cancer ◽

Diagnostic Research

Hepatocellular carcinoma (HCC) is the most common primary tumor of the liver and the fifth most common cancer in the world. The lungs, bone, and lymph nodes are frequent sites of metastasis of HCC. The purpose of the present study is show that metastases, although rare, must be among the differential diagnosis of skin lesions and that a diagnostic research based on these findings can be conducted. The authors report a rare case of metastatic hepatocellular injury to the scalp and skull treated by a radical surgical approach. Excision of the lesion in the scalp was performed “en bloc.” The tumor was supplied by the frontal branch of the superficial temporal artery. There are few case reports of metastatic HCC to scalp and skull; treatment of these lesions should be individualized in order to control symptoms, improve quality of life, and promote an increase in survival.

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Leprosy in Refugees and Migrants in Italy and a Literature Review of Cases Reported in Europe between 2009 and 2018

Microorganisms ◽

10.3390/microorganisms8081113 ◽

2020 ◽

Vol 8 (8) ◽

pp. 1113

Author(s):

Anna Beltrame ◽

Gianfranco Barabino ◽

Yiran Wei ◽

Andrea Clapasson ◽

Pierantonio Orza ◽

...

Keyword(s):

Infectious Disease ◽

Wide Spectrum ◽

Case Reports ◽

Case Series ◽

Skin Lesions ◽

Clinical Suspicion ◽

High Risk Population ◽

European Guidelines ◽

Eye Involvement ◽

Multibacillary Leprosy

Leprosy is a chronic neglected infectious disease that affects over 200,000 people each year and causes disabilities in more than four million people in Asia, Africa, and Latin America. The disease can appear with a wide spectrum of clinical forms, and therefore the clinical suspicion is often difficult. Refugees and migrants from endemic countries affected by leprosy can remain undiagnosed in Europe due to the unpreparedness of clinicians. We retrospectively describe the characteristics of 55 refugees/migrants with a diagnosis of leprosy established in Italy from 2009 to 2018. Continents of origin were Africa (42%), Asia (40%), and South and Central America (18%). The symptoms reported were skin lesions (91%), neuropathy (71%), edema (7%), eye involvement (6%), fever (6%), arthritis (4%), and lymphadenopathy (4%). Seven patients (13%) had irreversible complications. Overall, 35% were relapses and 66% multibacillary leprosy. Furthermore, we conducted a review of 17 case reports or case series and five nationwide reports, published in the same decade, describing 280 migrant patients with leprosy in Europe. In Europe, leprosy is a rare chronic infectious disease, but it has not completely disappeared. Diagnosis and treatment of leprosy in refugees and migrants from endemic countries are a challenge. European guidelines for this neglected disease in this high-risk population would be beneficial.

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Multi-organ involvement secondary to varicella zoster virus, herpes simplex virus and cytomegalovirus in an immunocompromised patient

BMJ Case Reports ◽

10.1136/bcr-2018-228150 ◽

2019 ◽

Vol 12 (3) ◽

pp. e228150 ◽

Cited By ~ 1

Author(s):

Ripal Jariwala ◽

Kristen Zeitler ◽

Nicole D Riddle ◽

Chakrapol Sriaroon

Keyword(s):

Herpes Simplex Virus ◽

Herpes Simplex ◽

Varicella Zoster Virus ◽

Immunocompromised Patient ◽

Case Reports ◽

Skin Lesions ◽

Viral Reactivation ◽

Organ Involvement ◽

Varicella Zoster ◽

Simplex Virus

The use of immunosuppressing agents can act as a catalyst for viral reactivation, promoting systemic infection with organ involvement. Current literature remains sparse on this topic but does provide individual case reports involving single viruses. We present the case of an immunocompromised patient with skin lesions, pancreatitis, colitis and hepatitis. Work-up revealed varicella zoster virus, which likely put the patient at risk for multi-organ involvement, as well as clinical suspicion of other implicated viruses, specifically herpes simplex virus and cytomegalovirus. A high clinical index of suspicion along with biopsy guidance for viral involvement in immunocompromised patients is crucial for early diagnosis and treatment of these conditions.

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Spindle Epithelial Tumor with Thymus-like Element of the Thyroid Gland

World Journal of Endocrine Surgery ◽

10.5005/jp-journals-10002-1100 ◽

2012 ◽

Vol 4 (2) ◽

pp. 74-76 ◽

Cited By ~ 1

Author(s):

V Satyanarayana ◽

Dajiram Govonda Mote

Keyword(s):

Thyroid Gland ◽

Case Reports ◽

English Literature ◽

Diagnostic Feature ◽

Published Data ◽

Epithelial Tumor ◽

Children And Adolescent ◽

Long Term Follow Up

ABSTRACT Spindle epithelial tumor with thymus-like different ion (SETTLE) is an extremely rare tumor arising from thyroid gland which was first time recognized and reported by Chan and Rosai. It is believed to be arising from the branchial pouch or the remnant of thymus within the thyroid gland as it reveals primitive thymic elements. It has been reported more than 20 times as an individual case reports in the searched English literature. It mostly occurs in the children and adolescent but cases of SETTLE are reported in adults and even in elderly patients. Age of patient is not diagnostic feature of the SETTLE tumor. According to the published data, SETTLE tumor has an indolent course but delayed blood-borne distant metastases is seen in the cases with long-term follow-up. The present case is 13-year-old boy who presented with solitary nodule of left lobe of the thyroid without any other symptoms. The patient was subjected to ipsilateral hemithyroidectomy. The histopathological report revealed the diagnosis of SETTLE tumor which was confirmed with the immunohistochemistry. The patient is followed-up regularly and there is no evidence of metastasis with more than 4 years follow-up. There are no existing guidelines regarding the optimum treatment and the duration of follow-up due to paucity of data about management of SETTLE tumor. The long-term follow-up is needed to detect recurrence or metastases. How to cite this article Mote DG, Satyanarayana V. Spindle Epithelial Tumor with Thymus-like Element of the Thyroid Gland. World J Endoc Surg 2012;4(2):74-76.

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Does the initial biopsy type affect clinically important outcomes in malignant melanoma? A meta-analysis.

Journal of Clinical Oncology ◽

10.1200/jco.2019.37.15_suppl.e21041 ◽

2019 ◽

Vol 37 (15_suppl) ◽

pp. e21041-e21041

Author(s):

Fatima Fayyaz ◽

Richard A Shellenberger

Keyword(s):

Malignant Melanoma ◽

Early Detection ◽

Risk Ratio ◽

Meta Analysis ◽

Excisional Biopsy ◽

Skin Lesions ◽

Pigmented Lesions ◽

Significant Rate ◽

All Cause Mortality ◽

Specific Mortality

e21041 Background: Malignant melanoma continues to have an increasing incidence worldwide without a decline in mortality, despite advances in treatment and early detection which have led to improved mortality outcomes for most malignancies. Early detection is particularly favorable for melanoma localized to the site of disease, which confers a five year survival rate of 98.4 %. Guidelines from the American Academy of Dermatology (AAD) give three acceptable options for the initial management of pigmented lesions suspicious for melanoma: elliptical excision, wide punch excision and a deep shave or saucerization. Methods: We performed a systematic review and meta-analysis to better define the evidence for differences between punch incisional and excisional biopsy with regard to clinically important outcomes in the evaluation of skin lesions suspicious for melanoma. These were melanoma specific mortality, all-cause mortality, Breslow tumor thickness, and melanoma recurrence. The comparison groups were punch incisional and excisional biopsy; there was insufficient data to include shave biopsies. Results: The result of pooling the studies that track melanoma specific mortality finds that there is a higher, but non-significant rate of death among those in the punch incisional group. The pooled risk ratio is 1.21, p = 0.153. The results of pooling the all-cause mortality studies also finds a higher, but non-significant, rate of death among the punch incisional group, RR = 1.03, p = 0.390. Pooling the two studies that examine Breslow thickness found that values in the punch incisional group are significantly lower, with a standardized mean difference of -0.17, p = 0.006. Finally, the pooled risk ratio for recurrence was not significant, RR = 1.161, p = 0.198. Conclusions: Until further data is available, there is no evidence to suggest a preferred diagnostic procedure in the initial evaluation of pigmented lesions suspected of cutaneous melanoma related to clinically important outcomes. To our knowledge, this is the first meta-analysis done on this important question regarding melanoma epidemiology and public health.

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