(Poster reference number 5686)
Trichothiodystrophy-like phenotype with normal hair microscopy andsubnorm erma
Vesicopustuloubullous lesions in a newborn
(Poster reference number 5452)
the first two months of life; keratotic, verrucous, linear plaques that may last severalmonths; hyperpigmentation, distributed along the lines of Blaschko that appear ininfancy; hypopigmented linear macules with no skin appendages appearing inadulthood. Extracutaneous manifestations may occur and can involve the centralnervous system, ophthalmologic, cardiologic, and musculoskeletal defects. Therehave also been reports of immunologic abnormalities, such as leukocytosis andeosinophilia in the first phase. Diagnosis is based on clinical and histopathologicfindings, which differ in each phase of progression of the disease. In the first phase,blisters full of eosinophils is characteristic; in the verrucous phase, hyperkeratosis,dyskeratosis, acanthosis, and papillomatosis are present; in the hyperpigmentationphase, there is pigment leakage and melanophages are present in the dermis; and inthe hypopigmentation phase, a thinning epidermis and an absence of skin append-ages is found. The follow-up ismostly important during the first year of life. A geneticstudy must be offered for the family.
Commercial support: None identified.(Poster reference number 5564)Henrik Kralund, MD, Department of Dermatology & Allergy Centre, Odense C,Denmark; Anette Bygum, MD, Department of Dermatology & Allergy Centre,Odense C, Denmark; Lilian Ousager, MD, PhD, Department of Clinical Genetics,Odense, Denmark; Nicolaas Jaspers, MMSc, PhD, Department of Genetics,Rotterdam, Netherlands
Background: The XPD/ERCC2 gene (19q13.2-q13.3) encodes one of the twohelicase subunits of the transcription factor II H (TFIIH). TFIIH is required bothfor basal transcription by the RNA polymerases I and II, as well as for nucleotideexcision repair (NER). Different mutations (45 to date) in the XPD gene can give riseto three phenotypically distinct disorders: xeroderma pigmentosum (XP), tricho-thiodystrophy (TTD) or combined XP and Cockayne syndrome (CS) (XP/CS). Thisheterogeneous group of rare, recessive disorders has varying, yet often overlapping,phenotypes of neuroectodermal disorders sometimes combined with a subset ofaging phenomena. The patient, a 25-year-old man, presented with ichthyosis/dryatrophic skin with lentigines, photosensitivity, basal cell carcinoma at the age of 23,sparse and dry hair (normal hair microscopy despite slightly reduced cysteinecontent), nail dystrophy, short stature, hypogonadism, epilepsy, NIDDM, chronicrenal insufficiency, anemia, hypertension and hypercholesterolemia and perceptivehearing loss. NER analysis on skin biopsy showed increased UV sensitivity andtranscription-coupled NER analysis displayed a borderline result. Consequentialsequencing of the XPD gene revealed the patient compound heterozygous formutations Y18H and A725P.
Conclusion: A 25-year old male was seen with an ichthyosiform dermatosis and theabove mentioned comorbidities. A clinical suspicion of TTD was ruled out based onhair microscopy (including polarized light) and sulphur content. Skin fibroblastswere examined with abnormal NER analyses leading to sequencing of theXPD/ERCC2 gene revealing two novel point mutations. It is concluded, that thepatient presents overlapping clinical features from TTD, XP and CS. In suspectedcases of TTD we propose further investigations with NER analyses and XPD/ERCC2genomic sequencing.
Commercial support: None identified.
AB96 J AM ACAD DERMATOLal sulphur content: Molecular genetic overlap with xerodosum and Cockayne syndromepigmentUniversitari de Sant Joan, Spain; Elia Camacho, Hospital Universitari de Sant Joande Reus, Tarragona, Spain; Inmaculada Gil, MEd, Hospital Universitari de SantJoan, Reus, Spain
The term trichothiodystrophy (TTD) encompasses a group of heterogeneousautosomal recessive disorders that share the characteristic feature of a short, brittlehair with abnormally low sulfur content. The TTD syndromes show defectivesynthesis of high-sulfur matrix proteins. We report a case of trichothiodystrophytype E in a 6-year-old girl that consulted for ichtyotic skin, alopecia and short stature.A 6-year-old Moroccan girl was referred to our clinic for evaluation of sparse brittlehair and ichthyic skin since birth. Her parents were not related and she had fourhealthy siblings. After a full-term controlled pregnancy, she was born with abirthweight of 500 g. Soon after, her parents noted ichthyic skin and sparse hair withan increased fragility. She also had short stature (less than p10), microcephaly, and adevelopmental delay at the time of presentation that included delayed speech,inability to understand complex orders as well as a motor developmental delay.Parents denied photosensitivity. On examination, areas of ill-defined patchynonscarring alopecia were observed, predominantly located in parietotemporaland occipital scalp. Hairs of the scalp, eyebrows and eyelashes were brittle, curled,sparse and short. Ears were low implanted and the superior part of the helix rimwasfolded over thus giving the ears a cup appearance (constricted or cup ear deformity).She presented diffuse thin brown to gray scales covering her body with most severeinvolvement in her back, lateral torsum and abdominal area. Nails and teethexamination did not reveal any abnormal findings. Ultrastructural examination ofthe hairs (environmental scanning electron microscopy combined with energydispersive radiographic spectroscopy) revealed cuticular defects consisting in poordeveloped squares. Hairs appeared flat with pili tortielike abnormalities. Becauseabout half of the patients with TTD may present mutations in the xerodermapigmentosum gene (XPD) that affect the nucleotide excision repair pathway (NER)and transcription of the DNA after UV irradiation, we performed a quantification ofDNA repair after UVC irradiation. The result confirmed that our patient wasnonphotosensitive.
Commercial support: None identified.dalgo, MD, Hospital Universitari de Sant Joan, Reus, Tarragonazon, Hospital Universitari de Sant Joan, Spain; Cristina Grau,Isabel Hi , Spain;Antoni A HospitalHAIR & NAIL DISORDERS
A patient presenting with nail changes and type I pityriasis rubra pilaris
(Poster reference number 5566)Frank Santoro, MD, Henry Ford Hospital, Department of Dermatology, Detroit,MI, United States; Padma Nallamothu, MD, Henry Ford Hospital, Department ofDermatology, Detroit, MI, United States
A 58-year-old white man presented to an academic dermatology practice withpainful palms and soles, skin changes and nail changes of greater than 1 yearduration. His only treatment was topical corticosteroids. On physical examination,the patient had symmetric erythematous, well-defined plaques on his trunk, upperand lower extremities, yellow-lamellated scaling on his palms and soles, and nailchanges. Biopsy showed psoriasiform dermatitis with alternating ortho and para-keratosis, consistent with a clinical diagnosis of type I pityriasis rubra pilaris (PRP).Nail findings included yellowing, subungual debris, irregular pitting, punctuatehemorrhage, Beaus lines, deep onychorrhexis, loss of cuticles, and erythemaaround the proximal nail fold. While nail changes in type I PRP have been reported,it is not widely recognized.
Commercial support: None identified.
APRIL 2012Fontenelle, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Murilo Drummond,Hospital Naval Marcilio Dias, Rio de Janeiro, Brazil; Natalia Valentim, HospitalNaval Marcilio Dias, Rio de Janeiro, Brazil; Tatiana Jaime, Hospital Naval MarcilioDias, Rio de Janeiro, Brazil; Thiago Jeunon, Investigacao em Dermatologia, Rio deJaneiro, Brazil
A 2-week-old female patient, full-termed, was brought to the dermatology clinicpresenting linear vesiculobullous eruptions on an erythematous base following thelines of Blaschko, located mainly on the upper and lower members, with no otheraltered signs on examination. Her mother had a similar lesion on her age born, on thelowermember that became hypochromic during the years. Biopsy revealed vacuolardamage on the basal layer with an eosinophilic infiltrate forming intraepithelialblistering. Cardiologic, neurologic, and opthalmologic evaluations were normal.Incontinentia pigmenti or BlocheSulzberger syndrome is a rare, dominant, X-linkedgenodermatosis caused by a mutation in the NF-kB essential modulator (NEMO)gene. The term incontinentia pigmenti originates from the microscopic appearanceof the lesions in the third phase of the disease, which is characterized by thepresence of lost pigment on the basal layer of the epidermis, interiorized intomelanophages, described as a melanin-incontinence. Garrod et al made its firstdescription in 1906 and Bloch and Sulzberger in 1926 and 1928, respectively. Thecondition affects predominantly female newborns, being generally lethal on males.The skin manifestations is divided into four phases that may be concomitant orsequential: linear vesicles, pustules showing inflammatory signs at birth or duringme, Hospital Naval Marcilio Dias, Rio de Janeiro, RI, Uniteduaraldi, Hospital Naval Marcilio Dias, Rio de Janeiro, BrazThais Jai States;Bianca G il; Elisa