Incontinentia Pigmenti and Bipolar Aphthosis: An Unusual Combination

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.

Download Full-text

Cutaneous manifestations of COVID-19 in Mexican patients: A case series and review of literature

SAGE Open Medical Case Reports ◽

10.1177/2050313x21997194 ◽

2021 ◽

Vol 9 ◽

pp. 2050313X2199719

Author(s):

Juan Carlos Palomo-Pérez ◽

Maria Elisa Vega-Memije ◽

David Aguilar-Blancas ◽

Erik González-Martínez ◽

Lucia Rangel-Gamboa

Keyword(s):

Respiratory Symptoms ◽

Case Series ◽

Signs And Symptoms ◽

Skin Lesions ◽

World Health ◽

Medical Community ◽

Atypical Pneumonia ◽

Cutaneous Lesions ◽

Cutaneous Manifestations ◽

Mexican Patients

China officially recognized atypical pneumonia outbreak in December 2019; on 11 March 2020, the World Health Organization declared COVID-19 as a pandemic that is produced by a new coronavirus, named SARS-CoV-2, of rapid transmissibility, which can be asymptomatic, with mild to severe respiratory symptoms, and with cardiovascular, neurological, gastrointestinal, and cutaneous complications. Considering that the pandemic prolonged more than initially expected was prognostic, it is essential for the medical community to identify the signs and symptoms of COVID-19. Thus, this work’s objectives were to present cases of cutaneous lesions observed in COVID-19 Mexican patients. We register cutaneous lesions in COVID-19 patients referred from internal medicine and otorhinolaryngology services to dermatology. We presented four interesting cases with cutaneous lesions, including exanthema morbilliform, urticaria, chilblains, ecchymosis, and facial edema, and review the available literature. The most frequent cutaneous markers are rash, chilblains, and urticaria. Skin lesions may be the first manifestation of COVID-19, accompany initial respiratory symptoms, or appear during the disease course. Symptoms associated with vascular changes (livedo reticularis and vasculitis) are considered of poor prognosis.

Download Full-text

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.

Download Full-text

Dermoscopy and Trichoscopy in Dermatomyositis—A Cross-Sectional Study

Journal of Clinical Medicine ◽

10.3390/jcm11020375 ◽

2022 ◽

Vol 11 (2) ◽

pp. 375

Author(s):

Magdalena Żychowska ◽

Adam Reich

Keyword(s):

Diagnostic Technique ◽

Skin Lesions ◽

Cross Sectional Study ◽

Cutaneous Lesions ◽

Cross Sectional ◽

Cutaneous Manifestations ◽

Non Invasive ◽

Inflammatory Dermatoses ◽

Curved Vessels ◽

Established Role

Background: (Video)dermoscopy is a non-invasive diagnostic technique that has a well-established role in dermatooncology. In recent years, this method has also been increasingly used in the assessment of inflammatory dermatoses. So far, little is known about the (video)dermoscopic features of dermatomyositis (DM). Methods: Consecutive patients with DM were included in the study and videodermoscopic assessments of the nailfolds, scalp, and active skin lesions were performed. Results: Fifteen patients with DM (10 women and 5 men) were included. Capillaroscopy showed elongated capillaries (90.9%), avascular areas (81.8%), disorganized vessel architecture (81.8%), tortuous capillaries (72.7%), dilated capillaries (72.7%), and hemorrhages (72.7%). The trichoscopic findings included linear branched vessels (80.0%), linear vessels (60.0%), linear curved vessels (53.3%), perifollicular pigmentation (40.0%), perifollicular erythema (33.3%), scaling (20.0%), white (20.0%) or yellow (20%) interfollicular scales, and white (20.0%) or pinkish (13.3%) structureless areas. Polymorphic vessels of an unspecific distribution and white or pink structureless areas were frequently observed under dermoscopy in cutaneous manifestations of DM, including Gottron’s papules and Gottron’s sign. Conclusions: Dermoscopy of the nailfolds (capillaroscopy), scalp (tricoscopy), and active cutaneous lesions may be of value in the preliminary diagnosis of DM.

Download Full-text

Incontinentia pigmenti: A propósito de un caso.

Revista Medica Herediana ◽

10.20453/rmh.v6i3.487 ◽

2013 ◽

Vol 6 (3) ◽

Author(s):

Tori Tori Carlos ◽

Enriqueta Villar De Cipriani ◽

Javier Arias Stella ◽

Carmen Avalos

Keyword(s):

Skin Eruption ◽

American Indians ◽

Basal Layer ◽

Signs And Symptoms ◽

Black Children ◽

Incontinentia Pigmenti ◽

South American ◽

North Central ◽

Central Nervous Systems ◽

Superficial Dermis

Incontinentia Pigmenti is a rare X-linked multisystem neuroectodermic disorder with signs and symptoms related mainly to the dermatologic, dental, ocular and central nervous systems, and characterized by death in the majority of male embryos. Affected children do not appear sick, in spite of the skin eruption, the peripheral leucocytosis and marked eosinophilia. Most of the cases are reported in caucasians, although there are description in black children, orientals, north central and south american Indians, and in our mestizos. The name of Incontinentia Pigmenti describes the incontinence of the melanin pigment from the basal layer of the epidemermis into the superficial dermis.

Download Full-text

Clinical profile of cutaneous manifestations of connective tissue diseases in North-East India

International Journal of Research in Dermatology ◽

10.18203/issn.2455-4529.intjresdermatol20213347 ◽

2021 ◽

Vol 7 (5) ◽

pp. 702

Author(s):

Deepa Mala Subba ◽

Nandakishore Thokchom ◽

Linda Kongbam ◽

Erika Salam ◽

Deepa Yumnam

Keyword(s):

Connective Tissue ◽

Lupus Erythematosus ◽

Cutaneous Lupus Erythematosus ◽

Connective Tissue Diseases ◽

Skin Lesions ◽

Discoid Lupus Erythematosus ◽

Serological Tests ◽

Cross Sectional ◽

Cutaneous Manifestations ◽

North East

Background: Connective tissue diseases (CTDs) are a heterogeneous group of autoimmune disorders having overlapping clinical features. Skin is often involved and it may be the earliest sign of the disease. This study highlighted the various cutaneous manifestations of common CTDs.Methods: A hospital-based cross-sectional study was carried out for a period of two years in 83 patients with CTDs in dermatology OPD, RIMS, Imphal. Detailed history taking, examination and relevant serological tests were performed.Results: The mean age was 39.78±17.29 years with female to male ratio of 4.5:1. Majority of the patients had lupus erythematosus (LE) (N=45) followed by systemic sclerosis (SSc) (N=25), rheumatoid arthritis (RA) (N=6), mixed connective tissue disease (MCTD) (N=4) and morphea (N=3). The most common presentation was raised skin lesions (45.8%) followed by Raynaud’s phenomenon (36.1%), photosensitivity (27.7%), skin tightness (26.5%) and joint pain (19.3%). Among LE patients, chronic cutaneous lupus erythematosus (CCLE) was the commonest variant and localised discoid lupus erythematosus (DLE) (22.9%) was the commonest presentation followed by malar rash and annular subacute lupus erythematosus (SCLE). Skin induration, microstomia and sclerodactyly were seen in most patients of SSc. Antinuclear antibodies were positive in 89.1% of patients. Anti-dsDNA and anti-Sm antibodies were positive in 62.2% and 33.3% of LE patients, anti-Scl 70 antibody was positive in 68% of SSc patients.Conclusions: CTDs are rare but potentially life-threatening. Proper understanding of the spectrum of cutaneous manifestations of CTDs is therefore necessary for early diagnosis and efficient management.

Download Full-text

Dermatological Manifestations in the Intensive Care Unit: A Practical Approach

Critical Care Research and Practice ◽

10.1155/2020/9729814 ◽

2020 ◽

Vol 2020 ◽

pp. 1-12

Author(s):

Mariona Badia ◽

José Manuel Casanova ◽

Lluís Serviá ◽

Neus Montserrat ◽

Jordi Codina ◽

...

Keyword(s):

Intensive Care Unit ◽

Intensive Care ◽

Cutaneous Lesion ◽

Skin Lesions ◽

Intensive Treatment ◽

Main Diagnosis ◽

Systemic Diseases ◽

Cutaneous Manifestations ◽

Critical Patients ◽

The Moment

Dermatological problems are not usually related to intensive medicine because they are considered to have a low impact on the evolution of critical patients. Despite this, dermatological manifestations (DMs) are relatively frequent in critically ill patients. In rare cases, DMs will be the main diagnosis and will require intensive treatment due to acute skin failure. In contrast, DMs can be a reflection of underlying systemic diseases, and their identification may be key to their diagnosis. On other occasions, DMs are lesions that appear in the evolution of critical patients and are due to factors derived from the stay or intensive treatment. Lastly, DMs can accompany patients and must be taken into account in the comprehensive pathology management. Several factors must be considered when addressing DMs: on the one hand, the moment of appearance, morphology, location, and associated treatment and, on the other hand, aetiopathogenesis and classification of the cutaneous lesion. DMs can be classified into 4 groups: life-threatening DMs (uncommon but compromise the patient's life); DMs associated with systemic diseases where skin lesions accompany the pathology that requires admission to the intensive care unit (ICU); DMs secondary to the management of the critical patient that considers the cutaneous manifestations that appear in the evolution mainly of infectious or allergic origin; and DMs previously present in the patient and unrelated to the critical process. This review provides a characterization of DMs in ICU patients to establish a better identification and classification and to understand their interrelation with critical illnesses.

Download Full-text

Hyper-IgE Syndrome in an Infant

Journal of Cutaneous Medicine and Surgery ◽

10.1177/1203475416629593 ◽

2016 ◽

Vol 20 (4) ◽

pp. 340-342 ◽

Cited By ~ 1

Author(s):

Mariah Giberson ◽

Laura Finlayson

Keyword(s):

Clinical Presentation ◽

Neonatal Period ◽

Immunoglobulin E ◽

Current Theory ◽

Primary Immunodeficiency Disorder ◽

Multisystem Disorder ◽

Cutaneous Manifestations ◽

Multiple Systems ◽

Hyper Ige Syndrome ◽

Immunodeficiency Disorder

Background: Hyper–immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disorder that affects multiple systems. One of the early findings is a papulopustular rash, which has a wide differential diagnosis. Method: The authors report the case of a male newborn diagnosed with HIES. He presented with papulopustular dermatitis on the scalp. The authors also present a review of current theory on the pathophysiology, clinical presentation, and management of HIES. Conclusion: Although HIES is a multisystem disorder, many of the manifestations of HIES may present after the neonatal period. The cutaneous manifestations of HIES are usually present shortly after birth, and the presentation of pustules in a newborn may be one of the reasons a dermatologist would be asked to assess a patient in the neonatal period.

Download Full-text

Cutaneous Effects of Smoking

Journal of Cutaneous Medicine and Surgery ◽

10.1177/120347540400800603 ◽

2004 ◽

Vol 8 (6) ◽

pp. 415-423 ◽

Cited By ~ 44

Author(s):

Anatoli Freiman ◽

Garrett Bird ◽

Andrei I. Metelitsa ◽

Benjamin Barankin ◽

Gilles J. Lauzon

Keyword(s):

Cigarette Smoking ◽

English Language ◽

Developed Countries ◽

Skin Lesions ◽

Health Concern ◽

Protective Effects ◽

Level Of Evidence ◽

Cutaneous Manifestations ◽

Medline Search ◽

Mesh Terms

Background: Cigarette smoking is the single biggest preventable cause of death and disability in developed countries and is a significant public health concern. While known to be strongly associated with a number of cardiovascular and pulmonary diseases and cancers, smoking also leads to a variety of cutaneous manifestations. Objective: This article reviews the effects of cigarette smoking on the skin and its appendages. Methods: A literature review was based on a MEDLINE search (1966–2004) for English-language articles using the MeSH terms cutaneous, dermatology, tobacco, skin, and smoking. An additional search was subsequently undertaken for articles related to smoking and associated mucocutanous diseases, with the focus on pathogenesis and epidemiologic data. Articles presenting the highest level of evidence and latest reports were preferentially selected. Results: Smoking is strongly associated with numerous dermatologic conditions including poor wound healing, wrinkling and premature skin aging, squamous cell carcinoma, psoriasis, hidradenitis suppurativa, hair loss, oral cancers, and other oral conditions. In addition, it has an impact on the skin lesions observed in diabetes, lupus, and AIDS. The evidence linking smoking and melanoma, eczema, and acne is inconclusive. Anecdotal data exist on the possible protective effects of smoking in oral/genital aphthosis of Behçet's disease, herpes labialis, pyoderma gangrenosum, acral melanoma, and Kaposi's sarcoma in AIDS patients. Conclusions: An appreciation of the adverse cutaneous consequences of smoking is important. Dermatologists can play an integral role in promoting smoking cessation by providing expert opinion and educating the public on the deleterious effects of smoking on the skin.

Download Full-text

CUTANEOUS MANIFESTATIONS OF HIV IN PEOPLE LIVING WITH HIV/AIDS AT TERTIARY CENTRE

10.36106/gjra/8009792 ◽

2021 ◽

pp. 70-72

Author(s):

Anubhav Agrawal ◽

Simmi Dube ◽

Aditya Tejwani

Keyword(s):

Cell Count ◽

Tertiary Care ◽

Skin Lesions ◽

Cd4 Count ◽

People Living With Hiv ◽

Care Centre ◽

Tertiary Care Centre ◽

Cutaneous Manifestations ◽

Cd4 Cell Count ◽

Cd4 Cell

BACKGROUND-The study was conducted to describe systematic clinical manifestations among HIV in PLHA at tertiary care centre. METHODOLOGY- This study was designed as cross sectional study at Department of Medicine, tertiary care centre. A total of 100 HIV infected patients were included detailed enquiry about presence of skin lesions along with CD4 cell count was obtained and entered in pretested questionnaire RESULTS-The mean age of patients with HIV was 43.9±10.2 years and Slight female preponderance was observed with male: 3 female ratio of 0.89:1. Mean CD4 count was 243.2±103.2 cells/mm . Majority of patients had CD4 count in the range of less than 3 200 cells/mm (64%) Staphylococcal skin infections were the most common skin lesions observed in 34% patients. All the patients with cutaneous manifestations presented in present study had low CD4 cell count. However, no statistically signicant association between CD4 count and cutaneous manifestations could be documented (p>0.05). CONCLUSION-Cutaneous manifestations are more prevalent in patients with lower CD4 counts and can also be observed with normal CD4 count levels amongst patients with HIV. Occurrence of cutaneous manifestations was higher in patients with lower CD4 count but the observed difference was not statistically signicant.

Download Full-text

Expanding Phenotype of Fetal Hydantoin Syndrome

PEDIATRICS ◽

10.1542/peds.70.2.328a ◽

1982 ◽

Vol 70 (2) ◽

pp. 328-329

Author(s):

Boris G. Kousseff ◽

Edward R. Root

Keyword(s):

Inguinal Hernia ◽

Developmental Delay ◽

Clinical Features ◽

In Utero ◽

Anterior Neck ◽

Vascular Abnormalities ◽

Cardiac Malformations ◽

Clinical Observations

We read with interest the article by Bartoshesky et al1 on ophthalmic and lethal cardiac malformations in the newborn exposed to diphenylhydantoin in utero. The article makes an important point about previously undescribed clinical features of fetal hydantoin syndrome and emphasizes the generalized effect of diphenylhydantoin as a teratogen. To elaborate further on this point, we wish to share our clinical observations in two patients with fetal hydantoin syndrome. One patient,2 a male (Figure), showed subcutaneous vascular abnormalities (cystic hygromas, telangiectasias, and capillary phlebectasias) on the anterior neck and both axillae, in addition to developmental delay, esotropia, epicanthal folds, high palate, triphalangeal thumbs, hypoplastic nails, inguinal hernia, and seven arches on the fingertips.

Download Full-text