Search

Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikiloderma can be a key presenting symptom of Rothmund-Thomson syndrome (RTS), dyskeratosis congenita (DC), hereditary sclerosing poikiloderma (HSP), hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP), xeroderma pigmentosum (XP), Bloom syndrome (BS), Kindler syndrome (KS), and Clericuzio-type poikiloderma with neutropenia (PN). In these conditions, poikiloderma starts early in life, usually before the second or third year. They may also be associated with photosensitivity and other significant multi-organ manifestation developed later in life. Poikiloderma could indicate the presence of a genetic disorder with potentially serious consequences. Poikiloderma almost always precedes more severe manifestations of these genodermatoses. Prompt diagnosis at the time of presentation could help to prevent complications and mitigate the course of the disease. This review discusses these to help the practicing clinician manage patients presenting with the symptom. To further facilitate early recognition, this paper also proposes a simple diagnostic algorithm., (© 2021 the International Society of Dermatology.)

Background: Mal de Meleda (OMIM# 248300; keratosis palmoplantaris transgrediens) is an autosomal recessive form of palmoplantar keratoderma, clinically characterized by sharp demarcated erythema and hyperkeratosis of the palms and soles that progress with age and extend to the dorsal aspects of the hands and feet. The mal de Meleda is caused by mutations in the SLURP1 gene that encodes secreted lymphocyte antigen 6/urokinase-type plasminogen receptor-related protein 1 (SLURP1). To date no reported cases from Indonesia. The aims of the study were to describe the typical features of mal de Meleda cases in a Javanese family in Indonesia and identify the mutation in the ARS B gene which encodes SLURP1., Patients and Methods: In this study, three Javanese patients, siblings from nonconsanguineous nonaffected parents, presented with classical symptoms of mal de Meleda. Genetic analysis screening SLURP1 gene was conducted for the specimens from the patients and other family members., Results: A novel homozygous three-nucleotide deletion in exon 3, i.e. c.271-273TCTdel, was identified in the patients. Subcloning and sequencing revealed both parents (I.2 and I.3) and one of the father's siblings (I.1) carry heterozygous c.271-273TCTdel, while the other father's sibling (I.2), the mother's sister (I.4), and a healthy control matched the ethnicity of the family, showing normal sequence of the entire SLURP1., Conclusion: This is the first mal de Meleda case of Javanese ethnicity to be documented, and the unique mutation has not previously been reported. The finding supports the notion that despite the rarity, SLURP1 mutation causing mal de Meleda is ubiquitous., (© 2017 The International Society of Dermatology.)

Background: Most patients who require skin prick testing cannot deal with their pruritus without taking antihistamines (AH). Orally administered AH has a quick onset of action, but it will suppress skin test responses (STR) from several days to weeks. In this study, we aimed to determine the onset and duration of action of single topical AH application by observing histamine-STR suppression over time., Methods: A two-step, randomized, intraindividual parallel-comparative, double-blind, placebo-controlled trial was conducted on the volar side of the forearm. Step 1 was aimed to determine the onset, while step 2 determined the duration of action. The topical AH tested was a single application of 5% doxepin hydrochloride cream, while 10 mg/ml histamine dihydrochloride was used to test the skin responses., Results: Our 10 subjects' mean age was 35.8 +/- 3.179 years. Histamine wheal response was suppressed starting on minute 90 and the wheal width were back to >/= 7 mm(2 )on minute 270. Significant histamine reactivity difference between genders (P = 0.201) and atopic status (P = 1.000), which could be a source of bias in histamine STR, was not found among our subjects., Conclusion: Single application of topical AH has an onset of action in 90 min and duration of action < 180 min. Because of its short duration of action, topical AH can be used in a patient who needs AH but is scheduled to undergo skin prick testing after a few hours, without influencing the patient's STR.