Disorders of Pigmentation

Paller, Amy S.; Mancini, Anthony J.

doi:10.1016/b978-0-323-24475-6.00011-x

Cited by 4 publications

(14 citation statements)

References 469 publications

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“…Skin abnormalities are the first and main clinical manifestations found in IP, 2 which could appear at birth or immediately after, especially in the first two weeks of life. 3 , 8 The dermatological abnormalities of IP characteristically follows Blaschko’s lines. 4 , 8 There are four phases of skin disorders in IP, 2 , 3 which includes the vesicular phase, verrucose phase, hyperpigmentation phase, and the hypopigmentation/atrophy phase.…”

Section: Introductionmentioning

confidence: 99%

“…4 , 5 Ninety-eight percent of cases are found in women. 3 , 6 This disorder mainly occurs following a mutation in the inhibitor of kappa β kinase gamma (IKBKG) gene, 1–3 formerly known as nuclear factor-κβ (NF-κβ) essential modulator (NEMO), 4 , 6 located on the Xq28 segment of the X chromosome. 1 , 2 , 4 , 7–9 …”

Section: Introductionmentioning

confidence: 99%

“…4 , 8 There are four phases of skin disorders in IP, 2 , 3 which includes the vesicular phase, verrucose phase, hyperpigmentation phase, and the hypopigmentation/atrophy phase. 3 , 4 Landy and Donnai in 1993 made diagnostic criteria consisting of major (clinical features typical of IP) and minor criteria for IP 10 and then in 2014, Minic et al 11 modified it by adding IKBKG gene mutations into the diagnostic criteria.…”

Section: Introductionmentioning

confidence: 99%

“…Approximately 80% of IP cases present with extracutaneous manifestations, 7 including anomalies of the teeth (30–92%), eyes (36–77%), CNS (28–66%), hair (13–35%), and nails (7–40%). 7 , 9 CNS and ocular manifestations can remain undetected until infancy or early childhood, leading to severe functional nervous system abnormalities such as convulsion, mental retardation, 3 , 12 and muscle spasticity, 3 as well as visual impairments ranging from mild to severe, even blindness. 2 , 7 , 13 , 14 …”

Section: Introductionmentioning

confidence: 99%

“… 9 Early screening of ocular disorders are important, as neovascularization of the retina can leads to retinal detachment and blindness, 13 , 14 however some cases may resolve spontaneously. 3 This case report aims to present two rare cases of IP in baby girl with ocular manifestations in the form of RN.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Retinal Neovascularization in Two Patients with Incontinentia Pigmenti

Dwiyana¹,

Banjarnahor²,

Diana³

et al. 2022

CCID

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Incontinentia pigmenti (IP) is a rare genodermatosis, inherited in an X-linked dominant pattern, making it generally found among women. Among several characteristics of IP are four phases of skin manifestation that tend to follow Blaschko’s lines, in addition to abnormalities of the eye, central nervous system (CNS), and teeth. Ocular involvement in IP patients can occur since birth, which can be classified into retinal or non-retinal disorders. Retinal disorders can result in detachment, which is a major ocular threat for IP patients. This article reports two IP cases with overlapped phases of skin disorders in baby girls with ocular manifestations since early life. Clinical signs and additional examination of the skin and eyes are utilized to make the diagnosis. All the features of the histopathological examination supported the diagnosis of IP, and ocular exams revealed abnormalities in the form of retinal neovascularization (RN). Although RN may resolve spontaneously, patients should be monitored for the development of other eye disorders such as visual impairment.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Retinal Neovascularization in Two Patients with Incontinentia Pigmenti

Dwiyana¹,

Banjarnahor²,

Diana³

et al. 2022

CCID

View full text Add to dashboard Cite

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Successful Treatment of Non-Langerhans Cell Histiocytosis With Topical Rapamycin in Two Pediatric Cases

Effendi¹,

Rizqandaru²,

Yuliasari³

et al. 2022

CCID

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Non-Langerhans cell histiocytosis (non-LCH) is a group of diseases characterized by the proliferation of histiocytes in tissues that is excluded from the diagnostic criteria for LCH. Juvenile xanthogranuloma (JXG) and benign cephalic histiocytosis (BCH) are the most common types of cutaneous non-LCH. These two diseases share similarities in both clinical and histological features, therefore, they can be difficult to differentiate. Thorough physical, dermoscopic, and histopathological examinations are required to distinguish between JXG and BCH. We hereby present two rare cases of non-LCH in pediatric patients, presented with JXG and BCH. The dermoscopic examination of both cases showed a setting-sun appearance, while the histopathological examination revealed Touton giant cells in the JXG case, and massive lymphocyte infiltration in the BCH case. Both patients were treated with 1% topical rapamycin in a split-side comparison for the first 12 weeks, followed by applications on both sides for a total duration of 24 weeks. As a result, there was a significant reduction in the size of the lesion, leading to patient’s satisfaction. Rapamycin is an immunosuppressive agent with antineoplastic activity. Rapamycin can be used as an alternative non-invasive topical treatment option for JXG and BCH. However, long-term observations are required to assess its effectiveness and side effects.

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Treatment of Facial Lentigines in an Adult Female Patient Suspected with Leopard Overlap Noonan Syndrome

Ruchiatan,

Alifiar,

Puspitosari

et al. 2023

IMCRJ

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Lentigines are defined as multiple small pigmented macules measuring up to one centimeter and surrounded by normal-appearing skin, commonly caused by genetic factors. LEOPARD syndrome (LS) is an autosomal dominant distinguished by the presence of several lentigines, with specific phenotypic characteristics that resembles Noonan syndrome (NS). LS is likely to be underdiagnosed or misdiagnosed because many of its symptoms are minor and the accurate diagnosis may be overlooked. Therapy for lentigines are generally aimed at tackling aesthetic disfigurement and its subsequent psychological impacts. This case report aims to highlight the efficacy of 532-nanometer (nm) Q-switched (QS) Nd:YAG laser in treating lentigines in a 21-year-old woman with LS overlap NS. The patient initially came to seek treatment of her facial lentigines. However, some mild abnormalities such as ocular hypertelorism, left eye ptosis, and webbed neck were observed. Hormonal, cardiac, and pulmonary functions were within normal limit. Histopathological results supported the diagnosis of lentigo. The patient was given sunscreen and depigmenting agents and was instructed to apply the medications routinely. The patient then underwent two sessions of 532-nm QS Nd:YAG laser with a 3 mm spot size, 1 J/cm 2 fluence, and a 1 Hz frequency. Objective clinical improvements were observed using spectrophotometer examination, there were no side effects found, and she was satisfied with the results. Dermatologists should play an integral role in establishing the diagnosis and management of systemic syndrome, manifesting specifically as dermatological symptoms. Lentigines in LS last throughout the patient’s lifespan. Nd:YAG laser therapy can be effective in treating lentigines with long-lasting results. It plays a role in improving the patient’s life quality, especially where the genetic disorder itself is a debilitating condition. The limitation of this case report was the lack of a genetic test, as the suspected diagnosis was made based on clinical symptoms.

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Disorders of Pigmentation

Cited by 4 publications

References 469 publications

Retinal Neovascularization in Two Patients with Incontinentia Pigmenti

Retinal Neovascularization in Two Patients with Incontinentia Pigmenti

Successful Treatment of Non-Langerhans Cell Histiocytosis With Topical Rapamycin in Two Pediatric Cases

Treatment of Facial Lentigines in an Adult Female Patient Suspected with Leopard Overlap Noonan Syndrome

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