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Dive into the research topics where Retno Danarti is active.

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Featured researches published by Retno Danarti.


Journal of Medical Genetics | 2005

Mutational spectrum of NSDHL in CHILD syndrome

Dorothea Bornholdt; Arne König; Rudolf Happle; Leveleki L; Mario Bittar; Retno Danarti; Vahlquist A; Tilgen W; Reinhold U; Poiares Baptista A; Grosshans E; Vabres P; Niiyama S; Sasaoka K; Tanaka T; Meiss Al; Treadwell Pa; Lambert D; Francisco Camacho; Karl-Heinz Grzeschik

CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects, MIM 308050) is an X linked dominant, male lethal, multisystem birth defect characterised by an inflammatory epidermal nevus showing a unique lateralisation pattern and strict midline demarcation. Hypoplasia or aplasia of skeletal or visceral structures may be found ipsilateral to the major cutaneous involvement.1 Owing to the highly characteristic clinical and histopathological features of the CHILD naevus,2 a diagnosis can be established not only in classical cases (fig 1) but also in cases with minimal or atypical involvement.3 In 2000, mutations in NSDHL (NAD(P)H steroid dehydrogenase-like protein) at Xq28 were identified by some of us to be the cause of this syndrome.4 Four additional NSDHL mutations have subsequently been reported in individuals with CHILD syndrome.5–8 Studies carried out on the murine Nsdhl mutants bare patches (Bpa) and striated (Str) have shown that this gene encodes a 3β-hydroxysteroid dehydrogenase (3β-HSD) that catalyses a step in the post-squalene cholesterol biosynthetic pathway and is localised within membranes of the endoplasmic reticulum and on the surface of intracellular lipid storage droplets.9–11 Non-functional NSDHL might cause the CHILD phenotype through a lack of cholesterol or other sterols downstream of the block in biosynthesis, or by the accumulation of intermediates upstream of the product generated by NSDHL. Figure 1  Thirteen year old patient with CHILD syndrome (case 9, table 1): ichthyosiform nevus showing lateralisation with unilateral distribution and midline demarcation; ipsilateral hypoplasia of arm and hand. Reproduced with permission. A related trait, X linked dominant chondrodysplasia punctata (CDPX2, MIM 302960),22 is caused by mutations in EBP (emopamil binding protein) at Xp11.22–p11.23 that functions similarly in the late cholesterol biosynthesis, downstream of NSDHL .23,24 In the past, a case of X linked dominant chondrodysplasia punctata showing unilateral involvement …


Journal of The American Academy of Dermatology | 2003

Linear atrophoderma of Moulin: postulation of mosaicism for a predisposing gene

Retno Danarti; Mario Bittar; Rudolf Happle; Arne König

Hyperpigmented atrophoderma arranged in a pattern following the lines of Blaschko and appearing during childhood or adolescence on the trunk or the limbs is a characteristic feature of linear atrophoderma of Moulin. We review 15 published reports and describe 4 additional cases. Histopathologically, there is no clear sign of atrophy found in specimens examined by light microscopy. It might well be argued that a focal reduction of subcutaneous fatty tissue contributes to the obvious clinical atrophy. The cause and pathogenesis of the disorder remains unknown. It may reflect mosaicism caused by a postzygotic mutation that occurred at an early developmental stage, in analogy to many other diseases distributed along Blaschkos lines. Linear atrophoderma of Moulin may reflect the action of an autosomal lethal gene surviving by mosaicism. There are so far no reports of a familial occurrence that could favor a paradominant transmission of linear atrophoderma of Moulin. However, theoretically, the postzygotic mutation giving rise to an aberrant cell clone could still be nonlethal. In a heterozygous individual, a postzygotic mutational event might lead to loss of the corresponding wild-type allele at the atrophoderma locus. This would give rise to a homozygous cell clone, which becomes manifest along the lines of Blaschko later in life.


Dermatology | 2001

Paradominant Inheritance May Explain Familial Occurrence of Cutis marmorata telangiectatica congenita

Retno Danarti; Rudolf Happle; Arne König

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular anomaly that virtually always occurs sporadically and in a patchy, quadrant, unilateral or otherwise segmental manifestation. This would suggest mosaicism of a postzygotic mutation. Some authors, however, described CMTC occurring in several members of a family. This paradox may be explained by the concept of paradominant inheritance. Heterozygous individuals carrying a ‘paradominant’ mutation are, as a rule, phenotypically normal. The mutation can therefore be transmitted unperceived through many generations. The trait only becomes manifest when a postzygotic mutation occurring during early embryogenesis gives rise to loss of heterozygosity and forms a mosaic population of cells being either homozygous or hemizygous for the mutation. This concept may explain the occasional familial occurrence of CMTC.


Dermatology | 2007

Inverse Klippel-Trenaunay Syndrome: Review of Cases Showing Deficient Growth

Retno Danarti; Arne König; Mario Bittar; Rudolf Happle

Background: Klippel-Trenaunay syndrome is defined by a coexistence of nevus flammeus and overgrowth of one or more limbs. Remarkably, however, deficient growth of an affected limb may likewise be noted. Observations: We collected from the literature a number of cases of Klippel-Trenaunay syndrome associated with deficient growth such as shortening or hypoplastic muscle mass of the affected extremity. Discussion: The cause of the unusual deficient growth is unknown. Some patients may be compound heterozygotes carrying a ‘plus’ and a ‘minus’ allele at the responsible gene locus, and postzygotic recombination would give rise to two different cell clones homozygous for either allele. Conclusion: In order to give a name to such paradoxical cases, we propose the term ‘inverse Klippel-Trenaunay syndrome’.


Dermatology | 2016

Topical Timolol Maleate 0.5% for Infantile Hemangioma: Its Effectiveness Compared to Ultrapotent Topical Corticosteroids - A Single-Center Experience of 278 Cases.

Retno Danarti; Lukman Ariwibowo; Sunardi Radiono; Arief Budiyanto

Background: Infantile hemangioma (IH) may have implications on parental distress and cosmetic disfigurement. To date, ultrapotent corticosteroids are used as a treatment of choice for superficial IH. However, due to their side effects and sometimes lack of IH regression, it is necessary to find alternative topical therapies. Timolol maleate 0.5% solution and gel are nonselective β-blockers that could inhibit proliferation and trigger regression of IH. Objective: To evaluate the efficacy of topical ultrapotent corticosteroids and timolol maleate 0.5% solution and gel for superficial IH. Patients and Methods: The study design was prospective. Two hundred and seventy-eight patients diagnosed as having superficial IH were enrolled from the outpatient clinic of the Department of Dermatology and Venereology, Dr. Sardjito Hospital, Yogyakarta, Indonesia, from January 2009 to December 2014. Patients were divided into three groups: A = treated with topical ultrapotent corticosteroid, B = timolol maleate 0.5% solution and C = timolol maleate 0.5% gel. Patients were followed for 6 months to evaluate the lesion. Lesion size was measured from scaled photodocumentation with the software program ImageJ®. Results: There were significant differences in IH size after treatment with timolol maleate 0.5% solution compared with ultrapotent corticosteroids (p < 0.001) and timolol maleate 0.5% gel compared with ultrapotent corticosteroids (p < 0.001). There was no significant difference in IH lesions after treatment with timolol maleate 0.5% solution versus gel (p = 0.744). Conclusion: Timolol maleate 0.5% solution and gel were significantly superior to topical ultrapotent corticosteroids in size reduction of superficial IH.


Acta Dermato-venereologica | 2005

Late-onset familial onychodystrophy heralding incontinentia pigmenti

Mario Bittar; Retno Danarti; Arne König; Andreas Gal; Rudolf Happle

Sir, Incontinentia pigmenti (IP) is an X-linked dominant trait that is intrauterine lethal for males. The disorder is caused by NEMO mutations involving the NFkB activation pathway (1). It is characterized by linear skin lesions and various defects of the central nervous system, the teeth and the eyes. The cutaneous lesions are arranged along the lines of Blaschko, reflecting functional X-chromosome mosaicism (2). Because the diagnosis can now be confirmed or excluded by molecular analysis (1), it is possible to ascertain cases showing a rather mild or atypical involvement. In the present family, nail changes acquired during adulthood were a clue to recognizing two cases of IP.


International Journal of Dermatology | 2010

CHILD syndrome vs. unilateral psoriasis

Rudolf Happle; Retno Danarti

areata with the 308-nm xenon chloride excimer laser: case report of two successful treatments with the excimer laser. Lasers Surg Med 2004; 34: 86–90. 4 Raulin C, Gundogan C, Greve B, Gebert S. Excimer laser therapy of alopecia areata – side-by-side evaluation of a representative area. J Dtsch Dermatol Ges 2005; 3: 524–526. 5 Dombrowski NC, Bergfeld WF. Alopecia areata: what to expect from current treatments. Cleve Clin J Med 2005; 72: 760–761, 765–766. 6 Farkas A, Kemeny L. Applications of the 308-nm excimer laser in dermatology. Laser Physics 2006; 16: 876–883. 7 Manstein D, Herron GS, Sink RK, et al. Fractional photothermolysis: a new concept for cutaneous remodeling using microscopic patterns of thermal injury. Lasers Surg Med 2004; 34: 426–443. 8 Waiz M, Saleh AZ, Hayani R, Jubory SO. Use of the pulsed infrared diode laser (904 nm) in the treatment of alopecia areata. J Cosmet Laser Ther 2006; 8: 27–30. 9 Ito M, Yang Z, Andl T, et al. Wnt-dependent de novo hair follicle regeneration in adult mouse skin after wounding. Nature 2007; 447: 316–320. 10 Chuong CM. Regenerative biology: new hair from healing wound. Nature 2007; 447: 265–266.


Journal of The American Academy of Dermatology | 2004

Becker's nevus syndrome revisited

Retno Danarti; Arne König; Mario Bittar; Rudolf Happle


European Journal of Dermatology | 2003

Large congenital melanocytic nevi may reflect paradominant inheritance implying allelic loss

Retno Danarti; Arne König; Rudolf Happle


European Journal of Dermatology | 2003

Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example.

Retno Danarti; Rudolf Happle

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