Subungual tumors in incontinentia pigmenti

A 22-year-old woman presented with intermittently painful subungual keratotic tumors of the hands as a late manifestation of incontinentia pigmenti. Scalloped bony deformities of the distal phalanges of both hands were noted on roentgenograms. The origin of these lytic deformities is uncertain; they may be secondary pressure phenomena or, alternatively, they may be an intrinsic manifestation of incontinentia pigmenti. These subungual tumors clinically resemble verrucae, keratoacanthomas, squamous cell carcinomas, or subungual fibromas. Therefore, it is important to recognize that subungual keratotic tumors may be a late manifestation of incontinentia pigmenti.     

Incontinentia pigmenti et achromians.

A case is reported, apparently the first of its kind in the literature, of a female child in which there were not only pigmented lesions of incontinentia pigmenti but also hypopigmented lesions of incontinentia pigmenti achromians. The title incontinentia pigmenti et achromians is suggested for this combined disorder. The child also had associated lesions in the form of nail dystrophy, delayed dentition and epilepsy.     

A Case of Incontinentia Pigmenti Associated with Multiorgan Abnormalities

Incontinentia pigmenti is a systemic disorder affecting the skin, teeth, eyes, nervous tissue, hair, nails, musculoskeletal system, and heart. We describe an 11-month-old girl with incontinentia pigmenti associated with a ventricular septal defect, left hemiatrophy, hemangiomas, an abnormal labial frenum, and spastic cerebral palsy manifested as left hemiplegia and developmental delay. We believe this patient illustrates that incontinentia pigmenti is a systemic disorder necessitating a multidisciplinary approach to management.     

Histologic Changes Resembling the Vernicous Phase of Incontinentia Pigmenti Within Epidermal Nevi: Report of Two Cases

A wide spectrum of histopathologic changes has been reported to occur within epidermal nevi. We saw two patients with warty nevoid lesions in which histopathologic features of incontinentia pigmenti, verrucous phase, were present. The diagnosis of incontinentia pigmenti was excluded because both patients were male, lacked a preceding vesicular stage, and did not demonstrate other features of the disorder.     

Distal digital keratoacanthoma: a report of 12 cases and a review of the literature

Twelve cases of distal digital keratoacanthoma (DKA) affecting the subungual area or the proximal nail fold are reported. The distal phalanx of the toe was affected in three cases. Spontaneous resolution occurred in one; one other recurred after surgery. We also discuss the link between DKA and incontinentia pigmenti subungual tumours; these entities are indistinguishable.     

Onset of disseminated Bloch-Sulzberger incontinentia pigmenti]

The case report of a 2-week-old girl suffering from incontinentia pigmenti (Bloch-Sulzberger Syndrome) with disseminated urticarial erythemas, papules and vesicles at the onset is presented. Histological examination showed eosinophilic spongiosis. The peripheral blood eosinophilia and the development of typical lesions led to the diagnosis of incontinentia pigmenti. Eosinophilic spongiosis and peripheral blood eosinophilia are important symptoms in the diagnosis of atypical incontinentia pigmenti.     

Keratoacanthoma developing on a pigmented patch in incontinentia pigmenti

Cutaneous manifestations of incontinentia pigmenti (IP) have classically been described as three sequential stages: an initial vesicobullous stage, a verrucous stage and a stage of swirled pigmentation. Verrucous lesions tend to last longer than vesicobullous eruptions, often persisting until 1 year of age. However, adult patients with verrucous lesions are rare. We report a case of keratoacanthoma with marked dyskeratosis on a pigmented patch in a 20-year-old woman. This tumor, like subungual keratotic tumors of IP, might have been developed as one of the late manifestations of the disease.     

Incontinentia pigmenti achromians.

A patient with incontinentia pigmenti archromians, who was born to consanguineous parents, is described. This is the first reported case from Iran, to our knowledge. A number of features of this disease belong more properly to classical incontinentia pigmenti.     

Nail dystrophy, an unusual presentation of incontinentia pigmenti

We describe a 57-year-old woman with a history of nail dystrophy since the age of 11 years. Multiple nail clippings were negative and multiple empirical treatments for presumed onychomycosis were unsuccessful. The patient has a daughter with classical incontinentia pigmenti. Molecular genetic analysis was positive for the NEMO gene deletion on the X chromosome, confirming the diagnosis of incontinentia pigmenti. Nail dystrophy was the sole feature of the disease in our patient.     

Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology

Incontinentia pigmenti is an uncommon X-linked dominant disorder, lethal in the majority of affected males in utero and variably expressed in females. Cutaneous manifestations are classically subdivided into 4 stages: vesicular, verrucous, hyperpigmented, and atrophic. Various hair and nail abnormalities, dental anomalies, and ophthalmologic and neurologic deficits are associated with the disorder. The gene for incontinentia pigmenti has been mapped to Xq28. Recently, mutations in the NEMO/IKKgamma gene located at Xq28 have been found to cause expression of the disease. Knockout mice heterozygous for NEMO/IKKgamma gene deficiency develop a clinical phenotype very similar to that of incontinentia pigmenti. NEMO/IKKgamma is an essential component of the newly discovered nuclear factor kappaB (NF-kappaB) signaling pathway. When activated, NF-kappaB controls the expression of multiple genes, including cytokines and chemokines, and protects cells against apoptosis. The mechanism by which NEMO/IKKgamma deficiency causes, via the NF-kappaB pathway, the phenotypical expression of the disease has recently been elucidated. In addition, the newest research findings on eosinophil recruitment through eotaxin release by activated keratinocytes are described in the review. Finally, anhidrotic ectodermal dysplasia with immunodeficiency, a disorder allelic to incontinentia pigmenti, is discussed together with implications on the current understanding of NF-kappaB function. (J Am Acad Dermatol 2002;47:169-87.) Learning objective: At the completion of this learning activity, participants will have a comprehensive and current understanding of incontinentia pigmenti, including its typical and uncommon clinical and histopathologic characteristics, diagnostic assessment, and current management strategies. Additionally, participants will gain the most current knowledge of the genetic and molecular basis of cutaneous pathomechanism.     

Incontinentia pigmenti presenting as seizures

Incontinentia pigmenti is a rare disorder that may affect many systems including the skin, central nervous system, bone, and eyes. We describe a 13-day-old girl who developed seizures on day 1 of life and was placed on antiseizure medication. On approximately day 4 of life, she developed a vesicular rash on her trunk and extremities. The pediatric team prescribed intravenous acyclovir and diphenhydramine cream. These were used without improvement. At dermatology consultation, linear and swirled vesicular lesions were seen. A skin biopsy specimen revealed eosinophils within intraepidermal vesicles consistent with a diagnoses of incontinentia pigmenti. This case of incontinentia pigmenti is of interest in that the initial symptom was a seizure disorder.     

Destructive Encephalopathy in Incontinentia Pigmenti: A Case Report

We report a 2-day-old neonate with incontinentia pigmenti combined with destructive encephalopathy. Generalized seizures developed soon after birth; characteristic papulovesicles and hyperpigmented linear streaks appeared several days later. The brain CT scan showed multiple low density areas with cortical atrophy and ventricular enlargement. Histopathological examination favored the diagnosis of incontinentia pigmenti. Although a series of microbiological examinations failed to identify any infectious agent, the patient was still treated vigorously with anticonvulsants, systemic antibiotics, and acyclovir from the beginning of hospitalization. However, the seizures persisted, and the patient died 26 days after birth. Our report suggests that incontinentia pigmenti with encephalopathy may have a fatal prognosis.     

Keratoacanthoma‐Like Growths of Incontinentia Pigmenti Successfully Treated with Intralesional Methotrexate

We report the case of a 17‐year‐old girl with incontinentia pigmenti who developed multiple large hyperkeratotic tumors within Blaschkoid hyperpigmented patches on her left leg. Biopsy demonstrated an endoexophytic nodule with irregular invaginations of keratinizing squamous epithelium and a central keratin‐filled crater, consistent with keratoacanthoma‐like lesions of incontinentia pigmenti. The tumors were successfully treated with intralesional methotrexate.     

Pulmonary tuberculosis and cutaneous mycobacterial infection in a patient with incontinentia pigmenti

Lupus vulgaris is reinfection tuberculosis of the skin and may result from direct extension, or hematogenous or lymphatic spread from a tuberculosis focus. Lupus vulgaris following bacille Calmette-Guerin (BCG) vaccination is a rare entity. Incontinentia pigmenti is an X-linked dominant genodermatosis in which vesicular, verrucous, and pigmented lesions are associated with various developmental defects. There is evidence of altered immunologic reactivity in some patients with incontinentia pigmenti. A 12-year-old girl hospitalized for pulmonary tuberculosis presented with bizarre-shaped brown macules following Blaschko lines on the left deltoid area, compatible with incontinentia pigmenti, which had appeared following BCG vaccination at the age of 7 years. Histopathologic examination found noncaseated granulomas in the dermis. Antituberculous treatment for pulmonary and cutaneous tuberculosis was initiated along with genetic counseling. Immunologic abnormalities have been reported in conjunction with incontinentia pigmenti. Simultaneous occurrence of pulmonary and cutaneous tuberculosis in our patient might be either coincidental or indicate derangements in the cellular immune system.     

Whorled scarring alopecia: a rare phenomenon in incontinentia pigmenti?

Incontinentia pigmenti is a rare X-linked dominant disease that affects the ectodermal tissues and is usually lethal in males. Two girls, 1 Malay and 1 Chinese, with incontinentia pigmenti of the Bloch-Sulzberger type had a whorled pattern of scarring alopecia. This phenomenon, hitherto unreported in association with this disorder, corresponded to the lines of Blaschko. The mother and maternal grandmother of the Malay girl also had whorled scarring alopecia. This phenomenon is permanent and can be used as a marker to ascertain affected adult women who may no longer have cutaneous manifestations. X chromosome inactivation in females during early embryogenesis results in a mosaic population of cells, which explains the linear and patchy cutaneous manifestations of incontinentia pigmenti.     

Localization of Eosinophil Granule Major Basic Protein in Incontinentia Pigmenti

We report a case of incontinentia pigmenti and demonstrate the deposition and localization of eosinophil major basic protein (MBP) in the vesicular stage of this neurocutaneous syndrome. The initial stage of incontinentia pigmenti is histologically characterized by intraepidermal vesicles associated with eosinophilic spongiotic dermatitis. Pathologic examination of a lesional tissue specimen from our patient demonstrated epidermal necrosis, spongiosis, and vesicle formation. Indirect immunofluorescence with affinity-chromatography purified antibody to human eosinophil granule MBP demonstrated many intact eosinophils within vesicles and scattered throughout the epidermis and dermis, and extracellular deposition of granular MBP in the tissue. The characteristic finding of extensive tissue eosinophilia in incontinentia pigmenti, as well as the new finding of extracellular deposition of an eosinophil granule protein in lesional tissue, suggests the involvement of eosinophils in the pathogenesis of the disease.     

色素失禁症1例

色素失禁症是一种罕见的主要发生于女婴的X连锁遗传性皮肤病。本文报道1例出生时躯干及四肢即出现红斑和脓疱性皮损,组织病理符合色素失禁症。     

Incontinentia pigmenti in identical twins with separate skin and neurological disorders

Incontinentia pigmenti in female identical twins is reported. The first baby showed the typical pigmentation of incontinentia pigmenti, while the second baby had hydrocephalus (colpocephaly) without pigmentation. They were identical, with a rate of 99.9% in 18 blood-type studies. Virus was not detected and cytogenetic studies proved normal. Both showed peripheral eosinophilia. The individual expressions of Incontinentia pigmenti in these identical twins were separated into cutaneous lesions and lesion of the central nervous system (intra-uterine hydrocephalus). Cutaneous lesions developed after birth. Twins with Incontinentia pigmenti are extremely rare and in this family showed different expressions of this disease in space and time.     

Incontinentia pigmenti in a Male Infant with Klinefelter Syndrome: A Case Report and Review of the Literature

Abstract: Incontinentia pigmenti, also known as Bloch–Sulzberger syndrome, is a hereditary, X‐linked dominant disorder characterized by abnormalities of skin, hair, teeth, eyes, and the central nervous system. It is classically considered a male‐lethal disorder leading to recurrent miscarriages of male fetuses. We report a rare case of a surviving baby boy with the classic clinical features of incontinentia pigmenti that can be explained by Klinefelter syndrome.