scholarly journals Follicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature

2021 ◽  
pp. 530-536
Author(s):  
Ya-Nin Nokdhes ◽  
Thanachat Rutnumnoi ◽  
Poramin Patthamalai ◽  
Charussri Leeyaphan
Keyword(s):  
Hidradenitis Suppurativa ◽  
Phenotypic Expression ◽  
Punch Biopsy ◽  
Autosomal Dominant Disorder ◽  
Genetic Studies ◽  
Clinical Criteria ◽  
Essentially Normal ◽  
Degos Disease ◽  
Interfollicular Epidermis ◽  
The Face

Dowling-Degos disease (DDD) is an autosomal dominant disorder with variable phenotypic expression. Classically, DDD is characterized by progressive reticulate hyperpigmentation on flexures with perioral pitted scars and comedone-like hyperkeratotic papules. Follicular DDD is a rare variant which was introduced by Singh et al. [<i>Indian J Dermatol Venereol Leprol</i>. 2013 Nov–Dec;79(6):802–4]. Follicular DDD differs from other variants because of its notable comedone-like hyperkeratotic hyperpigmented papules and a distinct histopathology which demonstrates pigmented filiform and branching rete pegs originating at the follicular infundibulum with many epidermal horn cysts while the interfollicular epidermis is essentially normal. Hereby, we present a case of follicular DDD with hidradenitis suppurativa (HS). A 37-year-old Thai man presented with slowly progressive hyperpigmented comedone-like papules on the face, neck, axillae, upper trunk, and buttocks with perioral pitted scars. Punch biopsy from a comedonal lesion on his back was consistent with follicular DDD. He also had recurrent painful nodules and abscess on the back, groin, and buttock which matched the clinical criteria for the diagnosis of HS. To date, a paucity of concurrent DDD with HS has been reported. Recent genetic studies speculate a shared pathophysiologic mechanism of DDD and HS.

Multivariate Analysis in Genetic Studies

1972 ◽  
Vol 21 (3) ◽  
pp. 204-210 ◽  
Author(s):  
Ch. Susanne
Keyword(s):  
Multivariate Analysis ◽  
Environmental Factors ◽  
The Body ◽  
Biometrical Analysis ◽  
Genetic Studies ◽  
The Face ◽  
Generalized Distances ◽  
Sib Pairs

SummaryThe results are presented of a method of generalized distances calculated by a noncentral χ2 test and applied to compare 63 twin pairs and 196 sib pairs. The advantage of this method in biometrical analysis lies in the fact that several measurements can be utilised simultaneously. Besides, it takes into account the distance of each relative to the centre of the population and also has the advantage of permitting the comparison of distances between pairs of relatives whatever their age or sex.Generalized distances were calculated for four measurements of the head, five of the body and eleven of the face. For all three sets of measurements the influence of genetical factors was demonstrated. The body seems less influenced by environmental factors and more conditioned by genetic ones.

scholarly journals Psoriasiform Mycosis Fungoides Involving the Face- A Rare Case Report

2021 ◽  
pp. 94-99
Author(s):  
N. R. Vignesh ◽  
Shreya Srinivasan ◽  
G. Sukanya ◽  
S. Arun Karthikeyan
Keyword(s):  
Case Report ◽  
Mycosis Fungoides ◽  
Rare Case ◽  
Cell Lymphoma ◽  
Punch Biopsy ◽  
Cutaneous T Cell Lymphoma ◽  
Rare Presentation ◽  
Rare Case Report ◽  
Atypical Cells ◽  
The Face

Mycosis fungoides is represented as the most common epidermotropic cutaneous T-cell lymphoma, which is mainly characterized by the proliferation of atypical cells within the epidermis. We report a rare presentation of mycosis fungoides in a 60-year-old male presenting with chronic psoriasiform plaque involving the face. Punch biopsy of the lesion from the forehead was taken for routine histological examination and immunohistochemical stains. Results of biopsy and immunohistochemical findings were consistent with mycosis fungoides and diagnosed as psoriasiform presentation of mycosis fungoides involving the face.

scholarly journals Adaptive marine conservation planning in the face of climate change: What can we learn from physiological, ecological and genetic studies?

2019 ◽  
Vol 17 ◽  
pp. e00566 ◽  
Author(s):  
Gil Rilov ◽  
Antonios D. Mazaris ◽  
Vanessa Stelzenmüller ◽  
Brian Helmuth ◽  
Martin Wahl ◽  
...  
Keyword(s):  
Climate Change ◽  
Conservation Planning ◽  
Marine Conservation ◽  
Genetic Studies ◽  
The Face

A novel mutation in POFUT1 gene associated with Dowling–Degos disease and hidradenitis suppurativa

2020 ◽  
Vol 60 (1) ◽  
Author(s):  
Miguel Fernando García‐Gil ◽  
Juan Monte Serrano ◽  
Mar Ramirez‐Lluch ◽  
Alberto Valero Torres ◽  
María Teresa López‐Giménez ◽  
...  
Keyword(s):  
Hidradenitis Suppurativa ◽  
Novel Mutation ◽  
Degos Disease

scholarly journals Genetic Relatedness and Superantigen Expression in Group A Streptococcus Serotype M1 Isolates from Patients with Severe and Nonsevere Invasive Diseases

2000 ◽  
Vol 68 (6) ◽  
pp. 3523-3534 ◽  
Author(s):  
Sonia Chatellier ◽  
Nahla Ihendyane ◽  
Rita G. Kansal ◽  
Farukh Khambaty ◽  
Hesham Basma ◽  
...  
Keyword(s):  
Disease Severity ◽  
Genetic Relatedness ◽  
Group A Streptococcus ◽  
Phenotypic Expression ◽  
Invasive Disease ◽  
Banding Patterns ◽  
Clinical Criteria ◽  
Group A ◽  
High Degree ◽  
Culture Supernatants

ABSTRACT The relatedness of group A streptococcal (GAS) strains isolated from 35 Canadian patients with invasive disease of different severity was investigated by a variety of molecular methods. All patients were infected with M1T1 strains and, based on clinical criteria, were classified as severe (n = 21) and nonsevere (n = 14) invasive GAS infection cases. All the M1 strains studied had the emm1.0 allele and the same streptococcal pyrogenic exotoxin (Spe) genotype,speA+ speB+ speC speF+speG+ speH smeZ+ ssa. All isolates had the same speA allotype, speA2. The randomly amplified polymorphic DNA banding pattern with two different primers was identical for all strains, and pulsed field gel electrophoresis analysis showed that 33 and 30 isolates had identical banding patterns after DNA digestion with SfiI or SmaI, respectively; the nonidentical isolates differed from the main pattern by only one band. A relatively high degree of polymorphism in specific regions of the sic gene was observed among isolates; however, this polymorphism was not associated with disease severity. Likewise, although the phenotypic expression of SpeA, SpeB, and SpeF proteins varied among the M1T1 isolates, there was no correlation between the amount of Spe expressed and disease severity. Importantly, mitogenic and cytokine responses induced by partially purified bacterial culture supernatants containing a mixture of expressed superantigens were very similar for isolates from severe and nonsevere cases (P > 0.1). Together, the data indicate that highly related invasive M1T1 isolates, some indistinguishable, can cause disease of varying severity in different individuals. These findings underscore the contribution of host factors to the outcome of invasive GAS infections.

A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN

2017 ◽  
Vol 178 (2) ◽  
pp. 502-508 ◽  
Author(s):  
M. Pavlovsky ◽  
O. Sarig ◽  
M. Eskin-Schwartz ◽  
N. Malchin ◽  
R. Bochner ◽  
...  
Keyword(s):  
Hidradenitis Suppurativa ◽  
Founder Mutation ◽  
Degos Disease

scholarly journals Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease

Blood ◽  
1992 ◽  
Vol 79 (2) ◽  
pp. 439-446 ◽  
Author(s):  
JL Miller ◽  
VA Lyle ◽  
D Cunningham
Keyword(s):  
Tandem Repeat ◽  
Autosomal Dominant ◽  
Sodium Dodecyl ◽  
Phenotypic Expression ◽  
Platelet Glycoprotein ◽  
Minor Amount ◽  
Bleeding Tendency ◽  
Proteolytic Fragment ◽  
Amino Terminal ◽  
Essentially Normal

The primary sequences of the three individual glycoprotein (GP) chains, GPIb alpha, GPIb beta, and GPIX, comprising the normal platelet GPIb/IX receptor for von Willebrand factor (vWF) have recently been determined, opening the possibility for characterization of disorders of this receptor at the molecular level. The presence of a leucine tandem repeat in each of these chains is of particular interest, because such repeats may be involved in associations between polypeptide segments. We now report an autosomal dominant variant of Bernard-Soulier disease associated with the heterozygous substitution of phenylalanine for a highly conserved leucine residue within the GPIb alpha leucine tandem repeat. Affected individuals experienced a moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Platelet aggregation was decreased only in response to ristocetin or to asialo- vWF. The kd for 125I-vWF binding to patients platelets was significantly increased over control values at 0.5 mg/mL ristocetin, but was normal at 1.0 or 1.5 mg/mL ristocetin. While sodium dodecyl sulfate-polyacrylamide gel electrophoresis showed an essentially normal complement of all components of the GPIb/IX complex, a minor amount of a putative proteolytic fragment was identified that migrated faster than GPIb and was immunoreactive with polyclonal anti-GPIb alpha antibody, but not with a monoclonal antibody directed against the 45-Kd amino-terminal region of GPIb alpha. However, because the great majority of patient GPIb alpha comigrates with normal GPIb alpha, the major functional abnormalities of the patient platelets are most likely a consequence of the altered structure of the nonproteolyzed protein. Full concordance within the studied family between phenotypic expression and a heterozygous single nucleotide substitution in genomic DNA coding for a phenylalanine in place of the wild-type leucine at residue 57 of the mature GPIb alpha, absence of this substitution in 266 alleles from the normal population, and the lack of any other abnormality of patient DNA throughout the entire coding sequence for GPIb alpha provide strong support that this substitution may constitute a pathologic point mutation responsible for the observed phenotypic abnormalities. While the roles that leucine tandem repeats may normally play within the GPIb/IX complex are not yet known, the perturbation of such a repeat in GPIb alpha may impair interaction with other components of the complex and/or with the binding of vWF.

scholarly journals Case report of hidradenitis suppurativa localized to the face in an HIV patient

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110579
Author(s):  
Brian D Rankin ◽  
Richard M Haber
Keyword(s):  
Case Report ◽  
Skin Disease ◽  
Hidradenitis Suppurativa ◽  
Case Reports ◽  
Hiv Positive ◽  
Inflammatory Skin Disease ◽  
Hiv Patients ◽  
Disease Case ◽  
The Face ◽  
Inflammatory Skin

Hidradenitis suppurativa is a chronic, debilitating inflammatory skin disease. Case reports of individuals with hidradenitis suppurativa presenting exclusively on the face, as well as reports of individuals with HIV and hidradenitis suppurativa, are rare. Here, we present the case of an HIV-positive man who presented with hidradenitis suppurativa localized only on his face. We also review facial hidradenitis suppurativa and hidradenitis suppurativa in HIV patients.

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