Congenital Circumscribed Acral Hypokeratosis

Santamarina-Albertos, Alba; Noguera‐Morel, Lucero; Feito-Rodríguez, M.; Beato-Merino, María-José; Lucas-Laguna, R. de

doi:10.1111/pde.12084

Cited by 8 publications

(1 citation statement)

References 5 publications

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“…CCAH is a disorder characterized by a well‐defined area of erythematous depressed skin with sometimes a scaly border, typically found on the palmar and plantar surfaces of middle‐aged to older women 1,2 . To the best of our knowledge, two previous pediatric cases are reported in literature, but this is the first one in a neonate 3‐4 . The etiology of CCAH remains unclear, but a mosaic mutation affecting palmoplantar keratinization may be involved as a cause, rather than a traumatic damage.…”

Section: Figurementioning

confidence: 99%

Congenital circumscribed plantar hypokeratosis

Bassi¹,

Oranges

Massi

et al. 2020

Int J Dermatology

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marital problems. On examination the striking finding was multiple (three) skin colored, pedunculated, sparsely hairy growths (largest-8 9 4 cm) on the left labia majora (Fig. 1). On palpation the tumors were soft, nontender, nonindurated, and freely mobile, and there was no evidence of genital warts as diagnosed by the gynecologist. A clinical diagnosis of giant skin tags was made with differentials of neurofibroma, trichodiscoma, and fibrofolliculomas. The growths were excised under local anesthesia with due consent and sent for biopsy. Biopsy revealed loose fibrocollagenous tissue with congested blood vessels covered by keratinized stratified squamous epithelium with no atypia or signs of malignancy, confirming the diagnosis as benign fibroepithelial polyp (skin tag) (Fig. 2). After the excision, the patient had a quick recovery with no complaints or complications. On her subsequent visit, the patient was very much relieved and was noticeably comfortable. She was happy to have avoided a big surgery as advised by the gynecologist. Cases of skin tag over the labia have already been reported before, therefore the purpose of this case report is not only to show the presence of skin tag over the vulva but also the presentation of the case and how it was dealt with by other specialty branches. 1,2 There exists an ignorance of people towards genital disease even in the well-educated. The patient was tolerating the problem for many years. The lack of proactive response by the patient could stem from a multitude of factors like embarrassment as a result of the problem, a busy personal/social life, or the sheer neglect of patient towards genital health. There also was negligence, ignorance, and lack of awareness/knowledge on the part of gynecologists when it came to genital dermatology who considered the lesions to be warts and were planning for an elective cesarean section. Furthermore, during the course of the problem, a dermatologist's opinion was never taken. Later when the clinical picture was shown to a gynecologist, they advised a biopsy to look for presence of testis. This points to difference of outlook even in the same case by various specialty branches, which further emphasizes the need for a joint treatment approach by all specialty branches wherever the need arises.

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Section: Figurementioning

confidence: 99%

Congenital circumscribed plantar hypokeratosis

Bassi¹,

Oranges

Massi

et al. 2020

Int J Dermatology

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Inherited Disorders of Cornification

Oji

Metze

Traupe

2016

Rook's Textbook of Dermatology, Ninth Edition

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The majority of keratinization disorders are referred to as Mendelian disorders of cornification. This is a very broad group, clinically characterized by hyperkeratosis or visible scaling or both. This chapter deals with the ichthyoses, palmoplantar keratodermas (PPKs) and miscellaneous cornification disorders such as porokeratoses. It is aimed primarily at dermatologists and physician scientists who have to make a clinical diagnosis and provide adequate management for their patients. Therefore a nosology and classification scheme has been chosen that is based on clinicogenetic and morphological features. Clinical diagnoses are then discussed with their molecular pathology. Part of the chapter addresses the management of congenital ichthyoses. Various tables provide an overview on clinical and/or pathophysiologically related groups of diseases. Finally, several cornification disorders are discussed that do not have a genetic basis, but are acquired or are of unknown aetiology (e.g. acquired ichthyoses/PPKs or perforating keratotic disorders).

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